Estudio cromosómico de 303 pérdidas gestacionales en México / Chromosome analysis of 303 pregnancy losses in Mexico

Resumen Antecedentes: Las alteraciones cromosómicas están presentes en 50 a 60 % de los abortos espontáneos y en 6 a 19 % de los mortinatos. Aunque se prefieren los microarreglos para estudiarlos, numerosos hospitales no pueden ofrecerlos. Objetivo: Presentar los resultados del estudio citogenético de 303 productos de la concepción (POC), 184 se obtuvieron de abortos espontáneos, 49 fueron mortinatos y en 17 no se identificó la de edad gestacional. Material y métodos: Se empleó cariotipo, hibridación in situ con fluorescencia, secuencias cortas repetidas en tándem y microarreglos, según el tipo de pérdida y la muestra disponible. Resultados: En 29 POC se encontró tejido materno, por lo que fueron eliminados de los análisis. En 250 (91.2 %)/274 casos se obtuvieron resultados informativos; la tasa de éxito del cariotipo fue de 80.7 %; la de los microarreglos de SNP, de 94.5 %; y la de la hibridación fluorescente in situ y la repetición corta en tándem, de 100 %. Se observaron anomalías citogenéticas en 57.6 % de los abortos espontáneos y en 24.5 % de los mortinatos; 94 % de las anomalías fueron numéricas y 6 %, submicroscópicas. Conclusiones: El cariotipo en conjunto con el estudio de secuencias cortas repetidas en tándem para descartar contaminación de células maternas es efectivo para estudiar abortos espontáneos; los microarreglos se recomiendan en los mortinatos.

Abstract Background: Chromosomal abnormalities are present in 50 to 60 % of miscarriages and in 6 to 19 % of stillbirths. Although microarrays are preferred for studying chromosomal abnormalities, many hospitals cannot offer this methodology. Objective: To present the results of the cytogenetic analysis of 303 products of conception (POC), which included 184 miscarriages, 49 stillbirths and 17 cases of undefined age. Material and methods: Karyotyping, fluorescence in situ hybridization, short tandem repeats and microarrays were used, depending on the type of loss and available sample. Results: In 29 POCs we found maternal tissue and were eliminated from the analyses. Informative results were obtained in 250 (91.2 %)/274 cases; the karyotyping success rate was 80.7 %; that of single nucleotide polymorphism microarrays, 94.5 %; and that of fluorescence in situ hybridization and short tandem repeat, 100 %. Cytogenetic abnormalities were observed in 57.6 % of miscarriages and in 24.5 % of stillbirths; 94 % of total anomalies were numerical and 6 % were submicroscopic. Conclusions: Karyotyping with simultaneous short tandem repeat study to rule out contamination of maternal cells is effective for studying miscarriages; in stillbirths, microarrays are recommended.

Chromosomal karyotype analysis of peripheral blood in infertility patients with different semen quality / 中国现代医生

@#Objective To analyze the type and incidence of abnormal chromosome karyotype in peripheral blood of infertile patients with different semen quality.Methods Selectet 292 infertility patients who came to our hospital from January 2018 to December 2021 for G-banding karyotyping and semen analysis.According to the semen analysis results,the patients were divided into abnormal semen quality group and normal control group.We made statistics and analysis on the abnormal karyotypes.Results In the group with abnormal semen quality,20 cases(18.87%)of abnormal karyotypes were found.In the normal control group,9 cases(4.84%)had abnormal karyotypes were found.The comparison of the abnormal rates of peripheral blood chromosome karyotypes between the two groups showed statistical significance(P<0.05).The detection rate of chromosomal abnormalities in patients with Azoospermia was 50%,and sex chromosome abnormalities were the main types of abnormalities in this group.Conclusion Karyotype analysis of infertile patients can effectively analyze the causes of infertility,and has important clinical significance for assisted reproduction and primary prevention of birth defects.

Application of amniotic fluid in situ culture combined with chromosome microarray analysis in prenatal diagnosis / 临床检验杂志

Objective To evaluate the effects combining in situ amniotic fluid culture with chromosomal microarray analysis(CMA)in prenatal diagnosis of fetal chromosomal abnormalities.Methods A retrospective analysis was conducted on 3 133 pregnant women who underwent amniocentesis at Huaihua Maternal and Child Health Hospital from October 2018 to February 2023 due to different indica-tions for prenatal diagnosis.The detection rates and differences of in situ amniotic fluid culture and CMA in detecting fetal chromosomal abnormalities were compared.Results Among the 3 133 samples,the detection rates increased by 0.95％(in situ culture)and 2.36％(CMA)in the double-indication group compared with the single-indication group.The combined testing detected 796 abnormal cases(25.41％),including 300 cases(9.58％)by in situ culture and 706 cases(22.53％)by CMA.Both techniques detected 145 aneu-ploidies and 31 large segmental structural abnormalities,while CMA additionally detected 169 copy number variants(CNV),loss of heterozygosity(LOH),absence of heterozygosity(AOH)/region of homozygosity(ROH)and uniparental disomy(UPD),and in si-tu culture additionally detected 11 balanced rearrangements.They jointly detected 23 cases of mosaicism(0.73％).Conclusion In si-tu amniotic fluid culture and CMA complement each other.Their combined application can significantly improve the detection rate of fe-tal chromosomal abnormalities and provide more detailed and accurate information for prenatal genetic counseling,thus facilitating preg-nant women to decide continuing or terminating the pregnancy.

Improvement and application of culture method for hemorrhagic amniotic fluid cells / 临床检验杂志

Objective To compare the success rates of different culture methods for hemorrhagic amniotic fluid.Methods Thirty-one hemorrhagic amniotic fluid samples from pregnant women who were subjected to chromosomal examination at Anhui Maternal and Child Health Hospital were collected from January 2021 to December 2022.Two culture methods,the slide in situ culture box method(re-ferred to as the slide method)and the plastic bottle culture combined with slide in situ culture box method(referred to as the combined culture method),were used for cell cultivation.All the cells were harvested and stained with Giemsa staining,then the number of eligi-ble karyotype was counted and the success rates were compared between the two methods.Results Among the 31 cases of the slide method,21 were successfully cultured with a success rate of 67.7％.For the combined culture method,all the 31 cases were success-fully cultured with a success rate of 100％.The success rate of the combined culture method was significantly higher than that of the slide method(P＜0.05).Of 31 bloody amniotic fluid samples,three cases were fresh bleeding,and an average number of eligible kary-otype was 8 in the slide method and 32 in the combined culture method.Twenty-eight cases were old bleeding,and an average number of eligible karyotype was 13 in the slide method and 53 in the combined culture method.The number of eligible karyotype in the com-bined culture method was significantly higher than that of the slide method(P＜0.05).Conclusion The combined culture method is suitable for the cultivation of hemorrhagic amniotic fluid samples,and should be worthy of promotion in the clinics.

Analysis of abnormal karyotype and clinical manifestations of 4 157 infertility patients in Southern Sichuan Province / 临床检验杂志

Objective To investigate the distribution of abnormal karyotypes and their associations with clinical manifestations of the infertile patients in southern Sichuan Province.Methods A total of 4 157 infertile patients who attended the Reproductive Medicine Center of our hospital from July 2018 to June 2021 were included.The chromosome karyotype in peripheral blood was detected by G-banding,and their semen analysis results,uterine development and other clinical data were collected.Results Among the 4 157 patients,chromosomal polymorphisms were found in 239 cases(5.75％),and abnormal karyotypes wee found 137 cases(3.30％).The abnormal karyotypes included 57 cases(41.61％)of sex chromosome aneuploidy,6 cases(4.38％)of Robertsonian transloca-tions,32 cases(23.36％)of balanced translocations,21 cases(15.33％)of chromosomal inversions,9 cases(6.57％)of mosai-cism,8 cases(5.84％)of marker chromosomes,3 cases(2.19％)of sex reversal and 1 case(0.73％)of sex chromosome deletion.In male patients with abnormal karyotypes,91.58％showed abnormal semen parameters,while in those with polymorphic karyotypes,55％had abnormal semen parameters.The patients with Turner syndrome had significantly smaller uterine dimensions(longitudinal,transverse,and anteroposterior)compared to the normal control group(P＜0.01).Conclusion Chromosomal abnormalities should be the important cause of infertility.Conducting karyotype analysis combining with clinical manifestations is crucial examination for the di-agnosis and reproductive guidance of infertile patients.

Evaluation of the therapeutic value of FISH signaling type and chromosome karyotype analysis in ETV6/RUNX1-positive pediatric B-ALL / 临床与实验病理学杂志

Purpose To explore the diagnostic value of dif-ferent fluorescence in situ hybridization(FISH)signal types and chromosomal karyotyping analysis in ETV6/RUNX1-positive B-cell acute lymphoblastic leukemia(B-ALL).Methods Clini-cal data of 164 newly diagnosed ETV6/RUNX1-positive B-ALL patients were collected for retrospective analysis of chromosomal karyotyping and FISH.Results Among the 164 patients,163 positive cases were detected by FISH,among them the classic 2F1R1G signal type was found in 61 cases,and 102 cases showed non-classic signal types,with 2F1G and 1F1R2G signal types being the most common,indicating ETV6 deletion.Among them,the classic 2F1R1G signal type was found in 61 cases,and 102 cases showed non-classic signal types,with 2F1G and 1F1R2G signal types being the most common,indicating ETV6 deletion.Among the 125 children who could undergo karyoty-ping analysis,106 had a normal karyotype and 19 had an abnor-mal karyotype,with no detection of t(12;21)translocation.Conclusion FISH technology has high sensitivity in detecting ETV6/RUNX1 fusion genes,and it often manifests as non-clas-sic signal types,including ETV6 deletions.Chromosomal karyo-typing analysis helps to identify complex karyotypes and polyploidy but is not conducive to detecting t(12;21)fusion.Therefore,both FISH signal types and karyotyping analysis play indispensable roles in ETV6/RUNX1-positive B-ALL.

Prevalence of karyotype alterations in couples with recurrent pregnancy loss in a tertiary center in Brazil

Abstract Objective To assess the prevalence and type of chromosomal abnormalities in Brazilian couples with recurrent pregnancy loss (RPL) and compare the clinical characteristics of couples with and without chromosome abnormalities. Methods We assessed the medical records of 127 couples with a history of two or more miscarriages, referred to a tertiary academic hospital in Belo Horizonte, Brazil, from January 2014 to May 2023. Karyotype was generated from peripheral blood lymphocyte cultures, and cytogenetic analysis was performed according to standard protocols by heat-denatured Giemsa (RHG) banding. Results Abnormal karyotypes were detected in 10 couples (7.8%). The prevalence of chromosomal abnormalities was higher among females (6.3%) compared to males (2.0%), but this difference was not statistically significant (p=0.192). The mean number of miscarriages was. 3.3 ± 1.1 in couples with chromosome abnormalities and 3.1 ± 1.5 in couples without chromosome abnormalities (p=0.681). Numerical chromosomal anomalies (6 cases) were more frequent than structural anomalies. Four women presented low-grade Turner mosaicism. No differences were found between couples with and without karyotype alterations, except for maternal age, which was higher in the group with chromosome alterations. Conclusion The prevalence of parental chromosomal alterations in our study was higher than in most series described in the literature and was associated with increased maternal age. These findings suggest that karyotyping should be part of the investigation for Brazilian couples with RPL, as identifying the genetic etiology may have implications for subsequent pregnancies.

Influence of Congenital Heart Defect Types over Cardiopulmonary Bypass, Aortic Cross-Clamping, and Intensive Care Unit Length of Stay and Their Association with Genetic Factors

Aim: Surgical correction of congenital heart defects (CHD) often requires interruption of blood flow through cardiopulmonary bypass (CPB) and aortic cross-clamping (ACC), for which duration(s) are considered to be prognostic factors, along with intensive care unit (ICU) length of stay (ICULOS). The aim of this study was to evaluate these surgical prognostic factors in pediatric patients with different types of CHD regarding their type of lesion and associated genetic factors. Study Design: Cross-sectional cohort study with 307 pediatric patients. Place and Duration of Study: Pediatric Intensive Care Unit (ICU) of Hospital da Criança Santo Antônio, in Porto Alegre/RS, Brazil, from 2006-2009 (3 years) Methodology: After inclusion criteria, we studied 266 pediatric patients admitted for the first time in a reference cardiac pediatric ICU from Southern Brazil following cardiac surgery. Intraoperative prognostic factors such as duration of CPB, ACC and ICULOS, in addition to dysmorphological and cytogenetic examinations were compiled and analyzed. P-values of <0.05 were considered significant. Results: CPB time was associated to four outflow tract defects (Tetralogy of Fallot [ToF], transposition of the great arteries [TGA], double outlet right ventricle, and truncus arteriosus [TA]), atrioventricular septal defect, and hypoplastic left heart syndrome (HLHS) (P < 0.001). ACC duration was associated with three outflow tract defects (ToF, TGA, and TA) and HLHS (P < 0.001). Moreover, CPB and ACC times showed an association with cyanotic and complex heart defects, as well as prolonged ICULOS (P < 0.001). There was no relationship between these prognostic factors and syndromic aspects or cytogenetic findings. Conclusions: CHD type has an impact over CPB and ACC duration and ICULOS, whereas genetic factors are not associated with those prognostic factors.

Clinical value of different genetic testing methods for detection of true fetal chromosome mosaicism / 中华围产医学杂志

Objective:To investigate the performance of chromosome karyotype, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) in prenatal diagnosis of true fetal chromosome mosaicism. Methods:This retrospective study enrolled 40 women with true fetal chromosome mosaicism from 4 071 singleton pregnant women who were indicated for and underwent amniocentesis or/and cordocentesis in the the First Affiliated Hospital of Sun Yat-sen University from April 2018 to August 2021. The results of chromosome karyotyping, CMA and FISH, the types of chromosomal mosaicism, mosaicism ratio and pregnancy outcomes were analyzed using Chi-square test. Results:(1) The detection rate of true fetal mosaicism was 0.98% (40/4 071). (2) Sex chromosome mosaicism accounted for 42.5% (17/40). Other chromosomal mosaicism involved chromosomes 21, 22, 18, 16, 7, 12, 15, 17 and 20, as well as balanced chromosomal translocation. (3) The detection rate of true fetal mosaicism by chromosome karyotyping was 77.4% (24/31) from amniotic fluid samples and 10/19 from umbilical cord blood samples, while that data by CMA was 76.7% (23/30) and 7/11,respectively. (4) Of the 40 pregnant women with fetal chromosome mosaicism, FISH test was performed on 20 cases (14 cases were verified with both amniotic fluid and umbilical cord blood samples, five with amniotic fluid samples and one with umbilical cord blood sample), and all of the diagnosis of mosaicism were confirmed. For those with mosaicism ratio <30%, the detection rate by FISH was higher than that by CMA among amniotic fluid samples [14/19 vs 43.5% (10/23), χ2=3.88, P=0.049]. (5) Among the 40 pregnant women, five were lost to follow-up; 18 chose to terminate the pregnancy; and 17 continued the pregnancy to delivery. No abnormalities in mental or physical development were reported in the 17 neonates after birth or during on-line follow-up between 6 to 24 months old. Of the 14 pregnant women with mosaicism ratio <30% which confirmed by FISH, eight chose to continue the pregnancy, and no abnormalities in mental development or growth were found in the neonates. Conclusions:In prenatal diagnosis of true fetal choromosome mosaicism, the incidence of sex chromosome mosaicism is the highest. FISH may improve the prenatal diagnosis rate of mosaicism and is more accurate in determining the mosaicism ratio. The combination of FISH, CMA and chromosome karyotyping would significantly improve the detection rate of chromosomal mosaicism and assess the mosaicism ratio more accurately, which is of great value in clinical consultation and evaluation of fetal prognosis.

Prenatal Genetic Diagnosis and Origin Analysis of Rare Complete Translocation Trisomy 18 / 中山大学学报(医学科学版)

ObjectiveTo discuss the origin of rare abnormal karyotypes of fetuses with high risk of trisomy 18 revealed by non-invasive prenatal testing （NIPT） and its impact on fertility. MethodsThe cytogenetic and molecular genetic analyses were performed on the abnormal chromosomes of a prenatally diagnosed fetus with rare complete translocation trisomy 18. Using the keywords “translocation trisomy 18” or “trisomy 18 translocation” in both Chinese and English， we searched PubMed， CNKI， SinoMed， WanFang Data， CQ VIP and the Chinese Medicine database. The relevant case series were retrieved and critically appraised. ResultsG-banded karyotype analysis showed that the maternal karyotype was 46，XX，t（9；18）（q31.2；q23） and the fetal karyotype was 47， XN， t （9； 18） （q31.2；q23）mat， +18， which was a rare complete translocation type of trisomy 18. The SNP array revealed the fetus had increased copy number of chromosome 18 and two complete chromosome 18 inherited from the mother with balanced chromosomal translocation. Literature search found two children with complete translocation trisomy 18 reported abroad. Both of them had trisomy 18 phenotype and originated from the balanced translocation between parental chromosome 18 and other chromosomes. ConclusionNIPT gives an effective advance warning of trisomy 18. SNP array not only improves the detection rate of chromosomal abnormalities， but also helps identify the origin. The karyotype is still the gold standard for prenatal diagnosis.

Clinical value of combined detection of chromosomal karyotype and Y chromosome microdeletion in azoospermia or oligo-spermia / 临床检验杂志

Objective To analyze and diagnose the chromosomal genetic etiology of male patients with azoospermia or oligozoospermia,and investigate the clinical application value of combined detection of chromosomal karyotype and Y-chromosome microdeletion in azoospermia or oligozoospermia.Methods The clinical data and peripheral blood samples of 240 male patients with azoospermia or oli-gospermia in Luzhou district of Sichuan were collected.The karyotype analysis of peripheral blood lymphocytes were analyzed by G-ban-ding in conventional chromosomal culture.Multiplex PCR technology was used to detect Y chromosome microdeletions.Results A-mong the 240 male patients with azoospermia or oligospermia,179 cases of azoospermia and 61 cases of severe oligospermia were found.The detection rate of chromosome karyotype abnormalities was 22.92％(55/240),including 30 cases of chromosome number abnor-malities,21 chromosome structure abnormalities and 4 combined abnormalities.The detection rate of Y chromosome microdeletion ab-normalities was 10.42％(25/240)with the highest deletion rate of 7.08％for AZFc abnormalities.The combined detection rate for the abnormalities of karyotype and Y chromosome microdeletion was 30.83％(74/240),among which 6 patients showed abnormalities in both detections.The detection rate of combined detections by the two methods was higher than that of single method(x2=30.24,P＜0.001).Conclusion This study systematically reported the incidence and types of karyotypes and Y chromosome microdeletions in male azoospermia or oligospermia patients in Luzhou district of Sichuan.We suggest that the combined application of the two methods may improve the detection rate of abnormality,which provides important guidance for the etiological diagnosis of male infertility pa-tients,genetic counseling and reproductive therapy.

Prenatal diagnosis and genetic counseling of fetuses with sex chromosome mosaicism / 中华检验医学杂志

Objective:To explore the clinical significance of the combined application of prenatal cellular and molecular genetics in the diagnosis of fetal sex chromosome mosaicism.Methods:A retrospective analysis was conducted on 14 034 pregnant women aged 20-46 years (mean age 27±3 years) who came to the Genetic Counseling Clinic of the First Affiliated Hospital of Zhengzhou University from May 1st 2017 to January 31th 2020 for G-banding karyotype analysis of fetal amniotic fluid chromosomes. They were 17-32 weeks pregnant and had no consanguineous marriage. The patients diagnosed as sex chromosome mosaicism were screened out and their prenatal diagnostic indications were analyzed. The results of whole-genome copy number variation sequencing (CNV-seq)/single nucleotide polymorphism-array(SNP-array)/fluorescence in situ hybridization(FISH) were comopared, combined with ultrasound findings, and the pregnancy outcomes of all pregnant women were followed up by access to our hospital′s electronic medical record system or telephone.Results:A total of 46 cases of sex chromosome mosaicism were found. There were 43 cases with two types of karyotype mosaicism, accounting for 93.48%, and 3 cases with three types of karyotype mosaicism, accounting for 6.52%. Comparison of karyotype and CNV-seq/SNP-array/FISH results showed that 4 cases had consistent results, 9 cases had consistent results but different proportion, and 10 cases had inconsistent results. Combined with the results of the cytogenetic/molecular genetic analysis and/or ultrasound findings, pregnant women will decide to continue or terminate the pregnancy.Conclusion:The combination of prenatal cytogenetic and molecular genetic methods is helpful for rapid diagnosis of fetal sex chromosome mosaicism, providing scientific basis for pregnant women′s pregnancy selection.

Clinical, genetic, and pathological analysis in 165 children with disorders of sex development / 中国当代儿科杂志

OBJECTIVES@#To investigate the clinical phenotypes, genetic characteristics, and pathological features of children with disorders of sex development (DSD).@*METHODS@#A retrospective analysis was conducted on epidemiological, clinical phenotype, chromosomal karyotype, gonadal pathology, and genotype data of 165 hospitalized children with DSD at Children's Hospital of Hebei Province and Tangshan Maternal and Child Health Hospital from August 2008 to December 2022.@*RESULTS@#Among the 165 children with DSD, common presenting symptoms were short stature (62/165, 37.6%), clitoromegaly (33/165, 20.0%), cryptorchidism (28/165, 17.0%), hypospadias (24/165, 14.5%), and skin pigmentation abnormalities/exteriorized pigmented labia majora (19/165, 11.5%). Chromosomal karyotype analysis was performed on 127 cases, revealing 36 cases (28.3%) of 46,XX DSD, 34 cases (26.8%) of 46,XY DSD, and 57 cases (44.9%) of sex chromosome abnormalities. Among the sex chromosome abnormal karyotypes, the 45,X karyotype (11/57, 19%) and 45,X/other karyotype mosaicism (36/57, 63%) were more common. Sixteen children underwent histopathological biopsy of gonadal tissues, resulting in retrieval of 25 gonadal tissues. The gonadal tissue biopsies revealed 3 cases of testes, 3 cases of dysplastic testes, 6 cases of ovaries, 11 cases of ovotestes, and 1 case each of streak gonad and agenesis of gonads. Genetic testing identified pathogenic/likely pathogenic variants in 23 cases (23/36, 64%), including 12 cases of 21-hydroxylase deficiency congenital adrenal hyperplasia caused by CYP21A2 pathogenic variants.@*CONCLUSIONS@#Short stature, clitoromegaly, cryptorchidism, hypospadias, and skin pigmentation abnormalities are common phenotypes in children with DSD. 45,X/other karyotype mosaicism and CYP21A2 compound heterozygous variants are major etiological factors in children with DSD. The most commonly observed gonadal histopathology in children with DSD includes ovotestes, ovaries, and testes/dysgenetic testes.

Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study

ABSTRACT BACKGROUND: Chromosomal abnormalities (CAs) have been described in patients with secondary amenorrhea (SA). However, studies on this association are scarce. OBJECTIVES: To evaluate the frequency and types of CAs detected by karyotyping in patients with SA. DESIGN AND SETTING: This retrospective study was performed in a reference clinical genetic service in South Brazil. METHODS: Data were obtained from the medical records of patients with SA who were evaluated between 1975 and 2022. Fisher's bicaudate exact test and Student's t-test were used, and P < 0.05 was considered significant. RESULTS: Among 43 patients with SA, 14 (32.6%) had CAs, namely del (Xq) (n = 3), 45,X (n = 2), 46,X,r(X)/45,X (n = 2), 46,XX/45,X (n = 1), 46,X,i(q10)/45,X (n = 1), 47,XXX (n = 1), 46,XX/47,XXX (n = 1), 46,XX/47,XX,+mar (n = 1), 45,XX,trob(13;14)(q10;q10)/46,XXX,trob(13;14)(q10;q10) (n = 1), and 46,XX,t(2;21)(q23;q11.2) (n = 1). Additional findings were observed mostly among patients with CA compared with those without CA (P = 0.0021). No difference in the mean age was observed between the patients with SA with or without CAs (P = 0.268025). CONCLUSIONS: CAs are common among patients with SA, especially those with short stature and additional findings. They are predominantly structural, involve the X chromosome in a mosaic, and are compatible with the Turner syndrome. Patients with SA, even if isolated, may have CAs, particularly del (Xq) and triple X.

First constitutive heterochromatin characterization and Karyotype of white stork Ciconia ciconia (Aves: Ciconiidae) / Primeira caracterização constitutiva de heterocromatina e cariótipo de cegonha-branca Ciconia ciconia (Aves: Ciconiidae)

Abstract The karyotype and constitutive heterochromatin pattern of the white stork Ciconia ciconia samples obtained from Manzala lake, Dimiaat, Egypt was described. Somatic cells of Ciconia ciconia samples have diploid number 2n= 68 chromosomes. Out of 68 chromosomes, 11 pairs including sex chromosomes were macrochromosomes and the remaining pairs were microchromosomes. Of the 11 macrochromosome pairs, no.1, 2, 4 and 5 were submetacentric and pairs no. 6, 7 and 8 were described as metacentric. In addition, the autosome pair no.3 was subtelocentric, while autosome pair no.9 was acrocentric. Also, the sex chromosome Z represents the fourth one in size and it was classified as submetacentric while, W chromosome appeared as medium size and was acrocentric. Furthermore, C-banding pattern (constitutive heterochromatin) revealed variation in their sizes and occurrence between macrochromosomes. Pairs no. 7 and 8 of autosomes exhibited unusual distribution of heterochromatin, where they appeared as entirely heterochromatic. This may be related to the origin of sex chromosomes Z and W. However, there is no sufficient evidence illustrate the appearance of entirely heterochromatic autosomes. Therefore, there is no available cytogenetic literature that describes the C-banding and karyotype of Ciconia Ciconia, so the results herein are important and may assist in cytogenetic study and evolutionary pattern of Ciconiiformes.

Resumo O cariótipo e o padrão constitutivo de heterocromatina das amostras de cegonha-branca Ciconia ciconia obtidas no lago Manzala, Dimiaat, Egito, foram descritos. As células somáticas de amostras de Ciconia ciconia possuem número diploide 2n = 68 cromossomos. Dos 68 cromossomos, 11 pares incluindo cromossomos sexuais eram macrocromossomos e os pares restantes eram microcromossomos. Dos 11 pares de macrocromossomos, os nos 1, 2, 4 e 5 eram submetacêntricos, e os pares nos 6, 7 e 8 foram descritos como metacêntricos. Além disso, o par de autossomos no 3 era subtelocêntrico, enquanto o par de autossomos no 9 era acrocêntrico. Além disso, o cromossomo sexual Z representa o quarto em tamanho e foi classificado como submetacêntrico, enquanto o cromossomo W apareceu como de tamanho médio e acrocêntrico. Além disso, o padrão de bandamento C (heterocromatina constitutiva) revelou variação em seus tamanhos e ocorrência entre macrocromossomos. Pares nos 7 e 8 dos autossomos exibiram distribuição incomum de heterocromatina, onde apareceram como totalmente heterocromáticos. Isso pode estar relacionado à origem dos cromossomos sexuais Z e W. No entanto, não há evidências suficientes para ilustrar o aparecimento de autossomos totalmente heterocromáticos. Portanto, não há literatura citogenética disponível que descreva o bandamento C e o cariótipo de Ciconia ciconia, portanto os resultados aqui apresentados são importantes e podem auxiliar no estudo citogenético e no padrão evolutivo de Ciconiiformes.

First constitutive heterochromatin characterization and Karyotype of white stork Ciconia ciconia (Aves: Ciconiidae) / Primeira caracterização constitutiva de heterocromatina e cariótipo de cegonhabranca Ciconia ciconia (Aves: Ciconiidae)

The karyotype and constitutive heterochromatin pattern of the white stork Ciconia ciconia samples obtained from Manzala lake, Dimiaat, Egypt was described. Somatic cells of Ciconia ciconia samples have diploid number 2n= 68 chromosomes. Out of 68 chromosomes, 11 pairs including sex chromosomes were macrochromosomes and the remaining pairs were microchromosomes. Of the 11 macrochromosome pairs, no.1, 2, 4 and 5 were submetacentric and pairs no. 6, 7 and 8 were described as metacentric. In addition, the autosome pair no.3 was subtelocentric, while autosome pair no.9 was acrocentric. Also, the sex chromosome Z represents the fourth one in size and it was classified as submetacentric while, W chromosome appeared as medium size and was acrocentric. Furthermore, C-banding pattern (constitutive heterochromatin) revealed variation in their sizes and occurrence between macrochromosomes. Pairs no. 7 and 8 of autosomes exhibited unusual distribution of heterochromatin, where they appeared as entirely heterochromatic. This may be related to the origin of sex chromosomes Z and W. However, there is no sufficient evidence illustrate the appearance of entirely heterochromatic autosomes. Therefore, there is no available cytogenetic literature that describes the C-banding and karyotype of Ciconia Ciconia, so the results herein are important and may assist in cytogenetic study and evolutionary pattern of Ciconiiformes.

O cariótipo e o padrão constitutivo de heterocromatina das amostras de cegonha-branca Ciconia ciconia obtidas no lago Manzala, Dimiaat, Egito, foram descritos. As células somáticas de amostras de Ciconia ciconia possuem número diploide 2n = 68 cromossomos. Dos 68 cromossomos, 11 pares incluindo cromossomos sexuais eram macrocromossomos e os pares restantes eram microcromossomos. Dos 11 pares de macrocromossomos, os nos 1, 2, 4 e 5 eram submetacêntricos, e os pares nos 6, 7 e 8 foram descritos como metacêntricos. Além disso, o par de autossomos no 3 era subtelocêntrico, enquanto o par de autossomos no 9 era acrocêntrico. Além disso, o cromossomo sexual Z representa o quarto em tamanho e foi classificado como submetacêntrico, enquanto o cromossomo W apareceu como de tamanho médio e acrocêntrico. Além disso, o padrão de bandamento C (heterocromatina constitutiva) revelou variação em seus tamanhos e ocorrência entre macrocromossomos. Pares nºs 7 e 8 dos autossomos exibiram distribuição incomum de heterocromatina, onde apareceram como totalmente heterocromáticos. Isso pode estar relacionado à origem dos cromossomos sexuais Z e W. No entanto, não há evidências suficientes para ilustrar o aparecimento de autossomos totalmente heterocromáticos. Portanto, não há literatura citogenética disponível que descreva o bandamento C e o cariótipo de Ciconia ciconia, portanto os resultados aqui apresentados são importantes e podem auxiliar no estudo citogenético e no padrão evolutivo de Ciconiiformes.

First constitutive heterochromatin characterization and Karyotype of white stork Ciconia ciconia (Aves: Ciconiidae)

Abstract The karyotype and constitutive heterochromatin pattern of the white stork Ciconia ciconia samples obtained from Manzala lake, Dimiaat, Egypt was described. Somatic cells of Ciconia ciconia samples have diploid number 2n= 68 chromosomes. Out of 68 chromosomes, 11 pairs including sex chromosomes were macrochromosomes and the remaining pairs were microchromosomes. Of the 11 macrochromosome pairs, no.1, 2, 4 and 5 were submetacentric and pairs no. 6, 7 and 8 were described as metacentric. In addition, the autosome pair no.3 was subtelocentric, while autosome pair no.9 was acrocentric. Also, the sex chromosome Z represents the fourth one in size and it was classified as submetacentric while, W chromosome appeared as medium size and was acrocentric. Furthermore, C-banding pattern (constitutive heterochromatin) revealed variation in their sizes and occurrence between macrochromosomes. Pairs no. 7 and 8 of autosomes exhibited unusual distribution of heterochromatin, where they appeared as entirely heterochromatic. This may be related to the origin of sex chromosomes Z and W. However, there is no sufficient evidence illustrate the appearance of entirely heterochromatic autosomes. Therefore, there is no available cytogenetic literature that describes the C-banding and karyotype of Ciconia Ciconia, so the results herein are important and may assist in cytogenetic study and evolutionary pattern of Ciconiiformes.

Resumo O cariótipo e o padrão constitutivo de heterocromatina das amostras de cegonha-branca Ciconia ciconia obtidas no lago Manzala, Dimiaat, Egito, foram descritos. As células somáticas de amostras de Ciconia ciconia possuem número diploide 2n = 68 cromossomos. Dos 68 cromossomos, 11 pares incluindo cromossomos sexuais eram macrocromossomos e os pares restantes eram microcromossomos. Dos 11 pares de macrocromossomos, os nos 1, 2, 4 e 5 eram submetacêntricos, e os pares nos 6, 7 e 8 foram descritos como metacêntricos. Além disso, o par de autossomos no 3 era subtelocêntrico, enquanto o par de autossomos no 9 era acrocêntrico. Além disso, o cromossomo sexual Z representa o quarto em tamanho e foi classificado como submetacêntrico, enquanto o cromossomo W apareceu como de tamanho médio e acrocêntrico. Além disso, o padrão de bandamento C (heterocromatina constitutiva) revelou variação em seus tamanhos e ocorrência entre macrocromossomos. Pares nos 7 e 8 dos autossomos exibiram distribuição incomum de heterocromatina, onde apareceram como totalmente heterocromáticos. Isso pode estar relacionado à origem dos cromossomos sexuais Z e W. No entanto, não há evidências suficientes para ilustrar o aparecimento de autossomos totalmente heterocromáticos. Portanto, não há literatura citogenética disponível que descreva o bandamento C e o cariótipo de Ciconia ciconia, portanto os resultados aqui apresentados são importantes e podem auxiliar no estudo citogenético e no padrão evolutivo de Ciconiiformes.

Comparison of Cavum Septum Pellucidum Size in Euploid and Aneuploid Fetuses / Comparação do tamanho do cavum septum pellicidium em fetos euploides e aneuploides

Abstract Objective The aim of the present study is to compare the cavum septum pellucidi (CSP) z-score in euploid and aneuploid fetuses and to investigate the performance of the CSP width/length and CSP width/biparietal diameter (BPD) ratios as a diagnostic marker in aneuploidy. Methods A total of 54 patients, 20 aneuploid and 35 euploid fetuses, between 18 and 37 weeks of gestation, were included in this retrospective study. The CSP width z-score was compared between the two groups. Receiver operating characteristic (ROC) curves were calculated for the CSP width/length and CSP width/BPD ratios to predict aneuploidy. Results The median CSP width was 4.8 mm (range, 1.8 to 8.5 mm) in the euploid group, and 5.4 mm (range 3.1 to 8.4 mm) in the aneuploid group. Cavum septum pellucidi width z-score, CSP width/length ratio, and CSP width/BPD ratio were significantly higher in fetuses with aneuploidy than in fetuses with normal karyotype (p= 0.001; p= 0.013; p= 0.028). In the ROC analysis, the CSP width/length ratio had the optimal cutoff value of 0.59, with 72.0% sensitivity and 58.0% specificity, and for the CSP width/BPD ratio, the cutoff value was 0.081 with 83.0% sensitivity and 61.0% specificity for detection of aneuploidy. Conclusion CSP width z-score was found to be increased in aneuploid fetuses. The CSP width /BPD ratio can be used as a new marker for predicting aneuploidy.

Resumo Objetivo: O objetivo do presente estudo é comparar o escore z do cavum septum pellucidi (CSP) em fetos euploides e aneuploides e investigar o desempenho das relações largura/comprimento do CSP e largura do CSP/diâmetro biparietal (BPD) como marcador diagnóstico de aneuploidia. como marcador de diagnóstico de aneuploidia. Métodos: Um total de 54 pacientes, 20 fetos aneuploides e 35 fetos euploides, entre 18 e 37 semanas de gestação, foram incluídos neste estudo retrospectivo. O escore z da largura da CSP foi comparado entre os dois grupos. As curvas ROC (Receiver Operating Characteristic) foram calculadas para as relações largura/comprimento da PEC e largura da PEC/BPD para prever a aneuploidia. Resultados: A largura mediana da CSP foi de 4,8 mm (variação de 1,8 a 8,5 mm) no grupo euploide e de 5,4 mm (variação de 3,1 a 8,4 mm) no grupo aneuploide. O escore z da largura do cavum septum pellucidi, a relação largura/comprimento do CSP e a relação largura do CSP/BPD foram significativamente maiores em fetos com aneuploidia do que em fetos com cariótipo normal (p < 0,001; p < 0,013; p < 0,028). Na análise ROC, a relação largura/comprimento da CSP teve o valor de corte ideal de 0,59, com 72,0% de sensibilidade e 58,0% de especificidade, e para a relação largura da CSP/BPD, o valor de corte foi de 0,081, com 83,0% de sensibilidade e 61,0% de especificidade para a detecção de aneuploidia. Conclusão: Verificou-se que o escore z da largura da CSP estava aumentado em fetos aneuploides. A relação A relação largura da CSP /BPD pode ser usada como um novo marcador para prever a aneuploidia.

Evaluación citogenética en parejas con esterilidad e infertilidad que concurren al Departamento de Genética del Instituto de Investigaciones en Ciencias de la Salud de la Universidad Nacional de Asunción en el periodo septiembre 2021- febrero 2022

La prevalencia de la infertilidad no posee datos muy exactos y varía en cada región, pero se estima que aproximadamente entre un 10 a 20% de las parejas experimentan algún problema de fertilidad durante su vida reproductiva. Según la Organización Mundial de la Salud (OMS), entre 48 millones de parejas y 186 millones de personas padecen de trastornos reproductivos en todo el mundo. El objetivo de este estudio fue la evaluación citogenética en parejas con esterilidad e infertilidad que concurrieron al Departamento de Genética del Instituto de Investigaciones en Ciencias de la Salud de la Universidad Nacional de Asunción (IICS-UNA) en el periodo septiembre 2021 a febrero 2022. Dicha evaluación citogenética fue realizada en muestras de 19 parejas mediante el análisis microscópico de 30 metafases por paciente. Se identificaron anomalías cromosómicas en algunas parejas estudiadas, se encontraron tres anomalías cromosómicas estructurales y varios polimorfismos o variantes cromosómicas. En el 63% de los individuos estudiados se observó un cariotipo normal, en el 8% alteraciones cromosómicas y en el 29% variantes cromosómicas. De las anomalías cromosómicas encontradas, las deleciones y translocaciones observadas se relacionan con una producción de gametos desequilibrados, dando lugar a abortos espontáneos y a la imposibilidad de concebir; en las parejas con cariotipo normal, se identificaron factores de riesgo como la edad, hábitos tóxicos como el consumo de tabaco, y enfermedades de base.

The prevalence of infertility does not have very exact data and varies in each region, but it is estimated that approximately 10 to 20% of couples experience some fertility problem during their reproductive life. According to the World Health Organization (WHO), between 48 million couples and 186 million people suffer from reproductive disorders worldwide. The objective of this study was the cytogenetic evaluation in couples with sterility and infertility who attended the Genetics Department of the Health Sciences Research Institute of the National University of Asunción (IICS-UNA) from September 2021 to February 2022. The cytogenetic evaluation was carried out in samples from 19 couples, through the microscopic analysis of 30 metaphases per patient. Chromosomal abnormalities were identified in some couples studied, three structural chromosomal abnormalities and several polymorphisms or chromosomal variants were found. A normal karyotype was found in 63% of the couples studied, chromosomal abnormalities in 8%, and chromosomal variants in 29%. Of the chromosomal abnormalities found, the deletions and translocations observed are related to unbalanced gamete production, leading to spontaneous abortions; in couples with a normal karyotype, risk factors such as age, toxic habits such as consumption of tobacco, and underlying diseases were identified.

Cytogenetics of Chilean land plants (Embryophyta): state-of-the-art and prospects / CItogenética de plantas terrestres Chilenas (Embryophyta): estado del arte y perspectivas

ABSTRACT Chile is located in the south-western region of South America along the Pacific Ocean and contributes to the worldwide flora with ca. 6,120 species of Bryophyta, Pteridophyta, Pinophyta, Gnetophyta, and Magnoliophyta (1.9% of worldwide total species), exhibiting high endemism across all plant divisions. Little is known about the genetic diversity of Chilean land plants worldwide, including their cytogenetic and molecular characteristics. In 2012 we published the first state-of-the-art review in Cytogenetics of Chilean Angiosperms. The article gathered 78 publications from 1924 to 2010 accounting for approximately 139 species (2.8% of total Chilean species). The aim of this paper was to review the advances in cytogenetic studies of Chilean land plants, reporting additional cytogenetic data for species of four botanical divisions until 2020. Cytogenetic data were searched in the CPCD (Chilean Plants Cytogenetic Database). In total, we found 180 publications from both Chilean and foreign researchers. To date, cytogenetic data have been reported for 499 Chilean land plant species (8.2% of total) belonging to 244 genera and 117 families. In this context, the 2001-2020 period has been among the most productive regarding publications, with 74 available reports that include 163 additional species. Based on chromosome numbers, angiosperms and bryophytes registered the greatest diversity with 55 and 29 different 2n, respectively; both divisions having the greatest number of studied species. Given the importance of increasing information on Chilean land plants, it is expected that more publications will contribute to the knowledge of their cytogenetic diversity in the near future.

RESUMEN Chile está ubicado en la región suroeste de América del Sur a lo largo del Océano Pacífico y contribuye a la flora mundial con aproximadamente 6.120 especies de Bryophyta, Pteridophyta, Pinophyta, Gnetophyta y Magnoliophyta (1,9% del total de especies en todo el mundo), que presentan un alto endemismo en todas las divisiones de plantas. Poco se conoce sobre la diversidad genética de las plantas terrestres chilenas en todo el mundo, incluidas sus características citogenéticas y moleculares. En 2012 publicamos la primera revisión sobre el estado del arte en Citogenética de Angiospermas Chilenas. El artículo reunió 78 publicaciones desde 1924 hasta 2010, que representan aproximadamente 139 especies (2,8% del total de especies chilenas). El objetivo de este trabajo fue revisar los avances en estudios citogenéticos de plantas terrestres chilenas, reportando datos citogenéticos adicionales para especies de cuatro divisiones botánicas hasta el 2020. Los datos citogenéticos se buscaron en el CPCD (Base de Datos Citogenéticos de Plantas Chilenas). En total, encontramos 180 publicaciones sobre citogenética de plantas terrestres chilenas, con datos citogenéticos para 499 especies (8,2% del total) pertenecientes a 244 géneros y 117 familias. En este contexto, el período 2001-2020 ha sido uno de los más productivos en cuanto a publicaciones, con 74 artículos disponibles que incluyen 163 especies adicionales. Basado en los números cromosómicos, angiospermas y briófitos registran la mayor diversidad, con 55 y 29 2n diferentes, respectivamente; ambas divisiones tienen también el mayor número de especies estudiadas. Dada la importancia de incrementar la información sobre plantas terrestres chilenas, se espera que más publicaciones contribuyan al conocimiento de su diversidad citogenética en un futuro próximo.