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1.
Medicine (Baltimore) ; 100(2): e24091, 2021 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-33466173

RESUMO

RATIONALE: Partial trisomy of the long arm of chromosome 6 syndrome is a rare chromosomal disorder with distinctive phenotypic expressivity, in which cytogenetic abnormalities are usually reported in infancy and childhood. Ultrasonographic findings on trisomy of the distal long arm of chromosome 6 in previous studies are limited. PATIENT CONCERNS: A 32-year-old, gravida 6, para 1, pregnant woman who had 4 spontaneous abortions underwent a clinical ultrasound examination at 26 weeks of gestation. DIAGNOSES: Ultrasonographic findings were microcephaly, an acoustic image of a transparent septum, a flat nasal bridge, right pulmonary artery stenosis, and a single umbilical artery. Cytogenetic and single-nucleotide polymorphism array analyses were performed to estimate genetic factors of this diagnosis by amniocentesis. INTERVENTIONS: After genetic counseling, the patient and her husband opted to terminate the pregnancy. OUTCOMES: Cytogenetic examination of the fetus showed the karyotype 46,XX,der(20)t(6;20)(q24;p13). The single-nucleotide polymorphism (SNP) array showed a 22.104-Mb duplication of 6q24.3q27 and a 0.784-Mb deletion of 20p13. LESSONS: Ultrasonographic findings of fetal abnormalities, including microcephaly, an acoustic image of a transparent septum, a flat nasal bridge, right pulmonary artery stenosis, and a single umbilical artery, may be related to a 22.104-Mb duplication of 6q24.3q27 and a 0.784-Mb deletion of 20p13. More ultrasonographic and genotype studies are required to extend the phenotypic characterization of partial trisomy 6q syndrome.

2.
Medicine (Baltimore) ; 100(1): e24224, 2021 Jan 08.
Artigo em Inglês | MEDLINE | ID: mdl-33429816

RESUMO

RATIONALE: Chromosomal 3q deletion is a recurrent genomic alternation, which is rarely reported in clinic. PATIENT CONCERNS: A 27-year-old woman underwent amniocentesis for cytogenetic analysis and single nucleotide polymorphism (SNP) array analysis at 27 weeks of gestation, due to ventricular septum defect in prenatal ultrasound findings. DIAGNOSES: G-banding analysis showed the karyotype of the fetus was normal and the couple also had normal karyotypes. However, SNP array detected a 1.71 Mb microdelection in 3q29, which was described as arr[hg19]3q29(194184392-195887205) × 1. There are 12 genes located in this locus. INTERVENTIONS: The couple refused SNP array to testify the 3q29 microdeletion was inherited or de novo and they chose termination of pregnancy. OUTCOMES: The deleted region in the fetus overlapped with part 3q29 microdeletion syndrome, which was characterized by learning disability, speech delay, mental deficiency, ocular abnormalities and craniofacial features. In addition, no similar/overlapping 3q29 microdeletion cases were reported according to the published literature and database. LESSONS: For the chromosomal microscopic imbalances partially overlapping with the defined pathogenic syndrome, deleted/duplicated size, genetic materials and phenotypic diversity should be taken into consideration when genetic counseling is offered by the clinicians.


Assuntos
Comunicação Interventricular/diagnóstico por imagem , Deficiência Intelectual/diagnóstico , Ultrassonografia Pré-Natal , Adulto , Amniocentese , Deleção Cromossômica , Cromossomos Humanos Par 3/genética , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Diagnóstico Diferencial , Feminino , Aconselhamento Genético , Cardiopatias Congênitas , Comunicação Interventricular/genética , Humanos , Deficiência Intelectual/genética , Gravidez , Segundo Trimestre da Gravidez
3.
Medicine (Baltimore) ; 100(1): e24227, 2021 Jan 08.
Artigo em Inglês | MEDLINE | ID: mdl-33429818

RESUMO

RATIONALE: 1q21.1 duplication is an uncommon chromosomal submicroscopic imbalance which is associated with growth/mental retardation, dysmorphic features, autism, multiple congenital and neuropsychiatric disorders. PATIENT CONCERNS: Two pregnant women underwent amniocentesis for cytogenetic analysis and chromosomal microarray analysis (CMA) following abnormal ultrasound findings. Case 1 presented short nasal bone and case 2 showed absent nasal bone, ventricular septal defect and umbilical cord circling in ultrasonic examination. DIAGNOSES: G-banding analysis showed that the two fetuses presented normal karyotypic results while CMA detected 1.796 Mb (case 1) and 1.242 Mb (case 2) microduplications in the region of 1q21.1q21.2 separately. Furthermore, the CMA also revealed a 1.2 Mb microdeletion of 8p23.3 in case 1. INTERVENTIONS: The couple in case 1 chose to terminate the pregnancy, while the couple in case 2 continued the pregnancy and finally delivered a male infant who presented low nasal bridge and ventricular septal defect. OUTCOMES: The 1q21.1q21.2 duplications in our report were located in the distal 1q21.1 region, overlapping with 1q21.1 duplication syndrome. Case 2 was the first reported live birth with 1q21.1 duplication according to prenatal CMA detection in China. LESSONS: The genotype-phenotype of 1q21.1 duplication is complicated due to the phenotypic diversity, incomplete penetrance, and lack of obvious characteristics. So it is difficult to predict the postnatal development and health conditions clinically. Hence, long term follow up is necessary for newborn infants with 1q21.1 duplication, irrespective of whether the duplication is de novo or inherited.


Assuntos
Deleção Cromossômica , Comunicação Interventricular/diagnóstico por imagem , Ultrassonografia Pré-Natal , Anormalidades Múltiplas , Adulto , Feminino , Aconselhamento Genético , Comunicação Interventricular/genética , Humanos , Recém-Nascido , Masculino , Gravidez , Segundo Trimestre da Gravidez , Adulto Jovem
4.
Mol Cytogenet ; 14(1): 5, 2021 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-33451353

RESUMO

BACKGROUND: Trisomy 19q is a recognizable syndrome and associated with a wide spectrum of clinical phenotypes in clinic. The purpose of this study was to explore the prenatal phenotypes of 19q13.42 duplication, which was rarely reported in clinic. CASE PRESENTATION: Three pregnant women presenting diverse indications for prenatal diagnosis accepted amniocentesis: increased nuchal translucency and fetal pyelic separation (case 2) and high risk of maternal serum screening for Down syndrome (case 1 and case 3). Case 1 and case 2 shared similar duplicated locus in the region of 19q13.42, encompassing part NLRP12 gene. The latter inherited the chromosomal duplication from the mother with normal phenotypes. Case 3 carried a 1.445 Mb duplication in the 19q13.42q13.43 region. It was proposed that evolutionary duplication of NLRP12 gene could have a causative role in autoinflammatory diseases development. The genotype-phenotype correlation depends mainly on the duplicated size and functional genes involved, which is still yet to be determined. All pregnant women chose to continue the pregnancy and delivered healthy children with no apparent abnormalities. CONCLUSIONS: The 19q13.42 microduplications in our study were the smallest fragments compared to previous literature. Our findings enriched the prenatal phenotypes for this chromosomal microscopic imbalance. It was proposed that long term follow up analysis should be guaranteed till adulthood to determine whether there will be other emerging clinical symptoms and developmental-behavioral disorders for such carriers.

5.
Artigo em Inglês | MEDLINE | ID: mdl-33454900

RESUMO

PURPOSE: To provide a validated method to identify copy number variation (CNV) in regions of the Y chromosome of infertile men by next-generation sequencing (NGS). METHODS: Semen analysis was used to determine the quality of semen and diagnose infertility. Deletion of the azoospermia factor (AZF) region in the Y chromosome was detected by a routine sequence-tagged-site PCR (STS-PCR) method. We then used the NGS method to detect CNV in the AZF region, including deletions and duplications. RESULTS: A total of 326 samples from male infertility patients, family members, and sperm donors were studied between January 2011 and May 2017. AZF microdeletions were detected in 120 patients by STS-PCR, and these results were consistent with the results from NGS. In addition, of the 160 patients and male family members who had no microdeletions detected by STS-PCR, 51 cases were found to exhibit Y chromosome structural variations by the NGS method (31.88%, 51/160). No microdeletions were found in 46 donors by STS-PCR, but the NGS method revealed 11 of these donors (23.91%, 11/46) carried structural variations, which were mainly in the AZFc region, including partial deletions and duplications. CONCLUSION: The established NGS method can replace the conventional STS-PCR method to detect Y chromosome microdeletions. The NGS method can detect CNV, such as partial deletion or duplication, and provide details of the abnormal range and size of variations.

6.
Biomed Res Int ; 2020: 4976204, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33344636

RESUMO

Translocations involving X and Y chromosomes rarely occur in humans and may affect reproductive function. We investigated an Xp:Yq unbalanced translocation with pseudoautosomal region (PAR) aberrations in a natural two-generation transmission. We report the case of an azoospermic male and his fertile mother without any other abnormal clinical phenotypes, except for short stature. Cytogenetic methods, including karyotyping and fluorescence in situ hybridization (FISH), revealed the translocation. Chromosomal microarray comparative genomic hybridization (array-CGH) was used to investigate the regions of Xp partial deletion and Yq partial duplication. Final chromosome karyotypes in the peripheral blood of the infertile male and his mother were 46,Y,der(X)t(X;Y)(p22.33;q11.22) and 46,X,der(X)t(X;Y)(p22.33;q11.22), respectively. Short-stature-homeobox gene deletion was responsible for the short stature in both subjects. PAR aberrations and AZFc duplication may be a direct genetic risk factor for spermatogenesis. This report further supports the use of routine karyotype analysis, FISH-based technology, and array-CGH analysis to identify derivative chromosomes in a complex rearrangement.

7.
J Clin Lab Anal ; : e23614, 2020 Oct 14.
Artigo em Inglês | MEDLINE | ID: mdl-33280174

RESUMO

BACKGROUND: Chromosome translocation is a genetic factor associated with male infertility. However, cases of Y chromosome/autosome translocation are rare. Individuals with translocation between the Y chromosome and an autosome have a variety of different clinical phenotypes. There is a need for further study of molecular cytogenetic feature of those with Y chromosome translocation. METHODS: We reported that an apparently healthy 31-year-old man, 168 cm tall and weighing 65 kg, had a 2-year history of primary infertility after marriage. Clinical diagnostic techniques included semen analysis, hormone measurements, cytogenetic analysis, fluorescence in situ hybridization (FISH), and high-throughput multiplex ligation-dependent probe amplification semiconductor sequencing. Detailed genetic counseling was provided to the patient. Intracytoplasmic sperm injection treatment combined with preimplantation genetic diagnosis was chosen with the aim of achieving a successful pregnancy. RESULTS: Semen analysis revealed cryptozoospermia. Hormone levels were within the normal limits. Sequencing results indicated the presence of the sex-determining region on Yp, and AZFa, AZFb, and AZFc regions on Yq. The patient's karyotype was 45,X,psu,dic(Y;14)(p11.3;q11.2), which was confirmed by cytogenetic analysis and FISH. CONCLUSION: This study reports a case of cryptozoospermia in a male patient with a Y;14 chromosomal translocation. When clinical karyotyping has revealed potential Y chromosome abnormality, FISH or molecular detection should be further performed to facilitate identification of the chromosomal breakpoint.

8.
Taiwan J Obstet Gynecol ; 59(6): 910-915, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33218411

RESUMO

OBJECTIVE: To retrospectively analyze the incidence of chromosomal polymorphisms in prenatal cytogenetic diagnostic cases and the effect of the clinical manifestation of these fetuses. MATERIALS AND METHODS: 490 fetuses with chromosomal polymorphisms among 9996 pregnant women who underwent prenatal cytogenetic diagnosis were included in this study and were set as group 1. Other 500 pregnant women, whose fetuses were with normal karyotypes, were randomly selected from the remaining pregnant women and set as group 2. Clinical information and outcomes and maternal serum screening results of group 1 were compared with group 2. RESULTS: The frequency of fetal chromosomal polymorphism was 4.90% (490/9996). The most common variants observed were 1/9/16 qh± (2.27%, 227/9996), followed by inv(9) (0.90%, 90/9996). 94.62% (264/279) of fetal chromosomal variants were inherited from parents. No statistical difference was found in clinical information and outcomes and maternal serum screening results between group 1 and group 2. CONCLUSION: The fetus with chromosomal polymorphism has no impact on serum markers of second trimester screening and does not play an important role for the clinical outcome of the current pregnancy either, whether it is inherited from the parents or a de novo mutation.

9.
Taiwan J Obstet Gynecol ; 59(6): 963-967, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33218423

RESUMO

OBJECTIVE: We characterized a maternally inherited small supernumerary marker chromosome (sSMC) derived from chromosome 15 according to prenatal detection and made a review on the prenatal sSMC(15) cases with mosaic maternal inheritance. CASE REPORT: A 29-year-old woman underwent amniocentesis at 19 weeks of gestation due to the high risk of Down syndrome in maternal serum screening. No abnormalities were observed in prenatal ultrasound findings. G-banding analysis revealed a karyotype of 47,XX,+mar. Subsequently, we recalled the couple back for chromosomal analysis. The father's karyotype was normal while the mother's karyotype was 47,XX,+mar[15]/46,XX[35]. Molecular genetic analysis was utilized to identify the marker chromosome. The chromosomal microarray analysis (CMA) results of the mother showed there existed microduplications in the locus of 14q32.33, 15q21.1, 19p12 and Xq26.2, respectively. Then Fluorescence in situ hybridization (FISH) using specific probes for chromosomes 13/21, 14/22, and 15 was applied on the mother and the fetus. And the marker chromosomes for the mother and the fetus were all finally identified as inv dup(15) (D15Z1++, SNRPN-, PML-), which illustrated that the fetus inherited the sSMC(15) from her mother. Finally, a healthy female infant was delivered with no phenotypic abnormalities at 39 weeks. CONCLUSION: The combined utilization of the molecular genetic technologies, such as FISH and CMA, plays a critical role in the identification of the origins and genetic constitutions of sSMC, which would make a significant contribution to genetic counseling and prenatal diagnosis.

10.
BMC Pregnancy Childbirth ; 20(1): 666, 2020 Nov 04.
Artigo em Inglês | MEDLINE | ID: mdl-33148206

RESUMO

BACKGROUND: The aim of this study was to determine the secondary sex ratio (SSR) of offspring in assisted reproduction technology (ART) in Jilin Province, China, and to analyse the influencing factors associated with SSR. METHODS: A cross-sectional study of 3833 babies including singletons and twins born to 2990 couples treated by ART between May 2011 and December 2018 was performed. RESULTS: The main outcomes of this study were that the SSR of ART babies in Jilin Province was 50.64% and the SSR was associated with fertilization methods (p < 0.05). Comparing to in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI) (OR = 0.808, 95%CI: 0.681-0.958) decreased the percentage of male babies. CONCLUSIONS: This study suggests that the SSR of ART births in Jilin Province was lower than the normal level and ICSI had a significant effect on SSR. Though we need more samples to study in the future, we still need to think about the impact of ICSI on SSR in ART.

11.
Mar Drugs ; 18(10)2020 Sep 29.
Artigo em Inglês | MEDLINE | ID: mdl-33003577

RESUMO

Inflammatory bowel disease (IBD) has been gradually considered a public health challenge worldwide. Sulfated polysaccharides, extracted from seaweed, have been shown to have an anti-inflammatory effect on the disease[...].

12.
Medicine (Baltimore) ; 99(40): e22496, 2020 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-33019446

RESUMO

RATIONALE: 15q11.2 microdeletion syndrome is a relatively rare chromosomal abnormality with incomplete penetrance and phenotypic variability. The reports on prenatal ultrasound abnormalities of fetus with 15q11.2 microdeletion are rare. PATIENT CONCERNS: A 30-year-old woman was referred for genetic counseling and prenatal diagnosis at 19 weeks of gestation because of increased nuchal translucency in prenatal ultrasound findings and a history of spontaneous abortion. DIAGNOSES: The cytogenetic analysis showed the karyotype of the fetus was 46,XY, inv(4)(p15q31) and chromosomal microarray analysis detected a 0.512 Mb deletion in 15q11.2 region. We recalled the parents to determine the origination of these chromosomal abnormalities. INTERVENTIONS: The pregnant woman chose to continue the pregnancies and finally delivered a healthy male infant at 39 weeks. OUTCOMES: The fetus inherited the inv(4)(p15q31) from his mother while the deletion in 15q11.2 was identified as de novo. Given the normal phenotype of the mother, it was reasonable to assume that the maternal inherited inv(4) in the fetus would not increase the risk of his abnormal phenotype. However, the pathogenicity of the microdeletion in 15q11.2 for the infant is unknown and long-term follow-up of progeny should be paid more attention. LESSONS: The combined application of traditional banding technique and molecular cytogenetic techniques can not only detect chromosomal structural abnormalities, but also identify the subchromosomal imbalances, which is beneficial to genetic counselling and would offer more guidance to prenatal diagnosis.


Assuntos
Deficiência Intelectual/diagnóstico , Diagnóstico Pré-Natal/métodos , Adulto , Aberrações Cromossômicas , Cromossomos Humanos Par 15 , Feminino , Aconselhamento Genético , Humanos , Cariotipagem , Medição da Translucência Nucal , Gravidez
13.
Medicine (Baltimore) ; 99(40): e22532, 2020 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-33019458

RESUMO

RATIONALE: Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes, which can be detected in patients with developmental retardation, infertile problems, and prenatal fetus. We report 3 adult female with fertility problems carrying sSMC(14/22) and aim to explore the correlation between sSMC(14/22) and fertility problems in women. PATIENT CONCERNS: Three Chinese female patients were referred for infertility consultation in our hospital. DIAGNOSES: The karyotype of these 3 patients were 47, XX, +mar. The chromosome microarray analysis (CMA) detected various chromosomal duplications and deletions in the 3 cases: a 0.49Mb gain of 5q32 for case 1; a 0.54Mb gain of 14q32.33 and a 1.83Mb gain of 16p11.2 for case 2; a 0.37Mb loss of 13q21.2q21.31 and a 0.12Mb gain of Xp11.2 for case 3. Fluorescence in situ hybridization (FISH) using the specific probes for chromosomes 13/21, 14/22, and 15 was applied to identify the origination of these sSMC, which were all finally identified as sSMC(14/22). INTERVENTIONS: Case 1 underwent the artificial reproductive technology to get her offspring and finally delivered a healthy male infant at 39 weeks. Case 2 did not plan to choose in vitro fertilization (IVF) to get offspring. Case 3 refused to do assisted reproductive technology. OUTCOMES: The genotype-phenotype correlation of sSMC(14/22) remain unclear. However, the existence of sSMC(14/22) might negatively affect the fertility ability in sSMC female carriers. LESSONS: The combined application of traditional banding technique and molecular cytogenetic techniques can better identify more details of sSMC. For sSMC carriers with fertility problems, they could get their offsprings through assisted reproductive technologies after comprehensive fertility assessment.


Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 14/genética , Cromossomos Humanos Par 22/genética , Infertilidade Feminina/genética , Adulto , China , Duplicação Cromossômica , Análise Citogenética , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariótipo
14.
Medicine (Baltimore) ; 99(39): e22340, 2020 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-32991447

RESUMO

RATIONALE: Apert syndrome (AS) is an autosomal dominant inheritance pattern of the most severe craniosynostosis syndrome. AS is characterized by synostosis of cranial sutures and acrocephaly, including brachycephaly, midfacial hypoplasia, and syndactyly of the hands and feet. Patients with AS often present with craniosynostosis, severe syndactyly, and skin, skeletal, brain, and visceral abnormalities. PATIENT CONCERNS: A pregnant Chinese woman presented with a fetus at 23 + 5 weeks of gestation with suspected AS in a prenatal ultrasound examination. Following ultrasound, the pregnancy underwent spontaneous abortion. Gene sequencing was performed on the back skin of the dead fetus. DIAGNOSIS: The diagnosis of AS was confirmed on the basis of clinical manifestations of the fetus, and a de novo mutation in the fibroblast growth factor receptor 2 (FGFR2) gene was identified. INTERVENTIONS: The couple finally chose to terminate the pregnancy based on the ultrasonic malformations and the risk of the parents having a neonate with AS in the future is small. However, any future pregnancy must be assessed by prenatal diagnosis. OUTCOMES: The dead fetus presented with bilateral skull deformation. Additionally, there were bilateral changes to the temporal bone caused by inwards movement leading to concave morphology, a "clover" sign, and syndactyly from the index finger/second toe to the little finger/little toe. AS was diagnosed by genetic testing, which showed a p.S137W (c.410C>G, chr10:123279677) mutation in the FGFR2 gene. LESSONS: Clinicians should be aware that there are a variety of ultrasound findings for AS. Therefore, genetic testing should be used when appropriate to confirm diagnosis of AS.


Assuntos
Acrocefalossindactilia/genética , Acrocefalossindactilia/patologia , Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genética , Aborto Espontâneo , Acrocefalossindactilia/diagnóstico , Feminino , Humanos , Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal
15.
J Clin Lab Anal ; : e23582, 2020 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-32951212

RESUMO

BACKGROUND: Trisomy of the short arm of chromosome 17 is a rare genomic disorder. The clinical features of complete trisomy 17p syndrome have been described. Most cases of this syndrome have been found in infants and children, but only a few cases were found by ultrasound in the prenatal period. METHODS: We report a case of complete trisomy 17p syndrome, which was inherited from paternal balanced translocation t(15;17)(q11.2;q11.2). A pregnant woman underwent an ultrasound examination at 24 weeks of gestation. Amniotic fluid was collected by amniocentesis. Cytogenetic and single nucleotide polymorphism array analyses were performed. We further reviewed the relationship between duplication regions and the clinical phenotype. RESULTS: Ultrasonographic evaluation showed intrauterine growth retardation and a right choroid plexus cyst, but the gallbladder was not observed. The fetal karyotype was 46,XX,der(17)t(15;17)(q11.2;q11.2)pat. The father's karyotype was 46,XY,t(15;17)(q11.2;q11.2). The single nucleotide polymorphism array results showed arr[GRCh37] 17p13.3q11.1(525-25309337)×3, which indicated a 25.309-Mb duplication. CONCLUSION: Complete trisomy 17p syndrome shows severe malformations. Intrauterine growth retardation is the most typical manifestation of this syndrome as shown by ultrasonography in the second trimester of pregnancy. The genotype-phenotype relationships of complete trisomy 17p syndrome are not completely consistent. To further determine these relationships, additional cases are necessary to provide more information from ultrasonographic findings during pregnancy.

16.
Medicine (Baltimore) ; 99(36): e22085, 2020 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-32899084

RESUMO

RATIONALE: Testicular tumors represent 1% to 1.5% of all tumors in men. Those derived from Leydig cells are rare and account for 1% of testicular tumors. Leydig tumor cells can produce steroid hormones such as estrogen, progesterone and testosterone. The amount and type of hormones secreted by these tumors may produce complicated clinical characteristics in these patients. PATIENT CONCERNS: Here, we report a patient with azoospermia, a testicular Leydig cell tumor (LCT), and elevated plasma testosterone levels. We describe the diagnostic and therapeutic experience of this case, and our follow-up of the patient's clinical indicators and fertility status. DIAGNOSIS: The patient was diagnosed with azoospermia and a testicular LCT. INTERVENTIONS: The patient underwent testicular tumor removal and long-term follow-up. OUTCOMES: After 4 months of follow-up, the patient's semen examination index significantly improved and his wife became naturally pregnant. At 4 months of gestation, the fetus was delivered because of a ruptured amniotic cavity. Twenty-six months after tumor removal, the patient's sex hormone levels had completely returned to normal and spermatogenic function had partially recovered, but there was no natural pregnancy with his partner. CONCLUSION: For LCTs, testis sparing surgery may provide a safe and feasible option to restore spermatogenic function, although longer-term follow-up is required. Drug assistance may be required to maintain spermatogenic function and achieve fertility, and further research is required.


Assuntos
Azoospermia/complicações , Tumor de Células de Leydig/complicações , Neoplasias Testiculares/complicações , Adulto , Humanos , Tumor de Células de Leydig/patologia , Tumor de Células de Leydig/cirurgia , Masculino , Neoplasias Testiculares/patologia , Neoplasias Testiculares/cirurgia , Testosterona/sangue
17.
Medicine (Baltimore) ; 99(37): e22124, 2020 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-32925763

RESUMO

RATIONALE: This study aimed to report 1 family case with novel Y chromosome structural variations by an established next-generation sequencing (NGS) method using unique STSs. PATIENT CONCERNS: The case studied was from a family with a father and son (the proband). G-band staining was used for karyotype analysis. Y chromosome microdeletions were detected by sequence-tagged site (STS)-PCR analysis and a new NGS screening strategy. DIAGNOSES: Semen analysis showed that the proband was azoospermic. The patient had an abnormal karyotype (45,X[48%]/46,XY[52%]). His father exhibited a normal karyotype. STS-PCR analysis showed that the proband had a deletion of the AZFb+c region, and his father had no deletion of STS markers examined. The sequencing method revealed that the patient had DNA sequence deletions from nt 20099846 to nt 28365090 (8.3 Mb), including the region from yel4 to the Yq terminal, and his father exhibited a deletion of b1/b3 and duplication of gr/gr. INTERVENTIONS: The proband was advised to undergo genetic counseling, and consider the use of sperm from a sperm bank or adoption to become a father. OUTCOMES: The proband was azoospermic. AZFc partial deletions may produce a potential risk for large AZFb+c deletions or abnormal karyotypes causing spermatogenic failure in men. LESSONS: The NGS method can be considered a clinical diagnostic tool to detect Y chromosome microdeletions. The partial AZFc deletions and/or duplications can be a risk of extensive deletions in offspring.


Assuntos
Infertilidade Masculina/diagnóstico , Infertilidade Masculina/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Adulto , Deleção Cromossômica , Cromossomos Humanos Y/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Cariotipagem , Masculino , Sitios de Sequências Rotuladas , Aberrações dos Cromossomos Sexuais
18.
J Clin Lab Anal ; : e23514, 2020 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-32864771

RESUMO

OBJECTIVE: To compare karyotype and chromosomal microarray (CMA) analysis of aneuploid chromosome mosaicism in amniocentesis samples. MATERIALS AND METHODS: A total of 2091 amniocentesis samples from pregnant women were collected from March 1, 2019, to January 31, 2020. Karyotype analysis was performed using G-banding and CMA analysis used the Affymetrix CytoScan 750K SNP microarray. RESULT: Thirteen cases with aneuploid chromosome mosaicism were detected and compared between the karyotype and CMA methods. Seven of these cases were trisomic mosaicism, and the levels of mosaicism calculated from CMA were higher than those detected from karyotype analysis; noting three cases of trisomy mosaicism were not detected by karyotype analysis. Four cases exhibited monomeric mosaicism, and the levels of mosaicism detected in three of these cases were higher in karyotype compared with CMA analysis; one case had equivalent levels of monomeric mosaicism from both karyotype and CMA analysis. Two other cases from karyotype analysis were a mix of monosomic and trisomic mosaicism, whereas the CMA result was restricted to monosomic mosaicism for these cases. CONCLUSION: Both karyotype and CMA analysis can be used to detect aneuploid chromosome mosaicism. However, the two methods produced different results. CMA and karyotype analysis have their own advantages in detecting aneuploid mosaicism, and the combination of these methods provides a more rigorous diagnosis.

19.
Medicine (Baltimore) ; 99(31): e21107, 2020 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-32756090

RESUMO

RATIONALE: Infertility is a common medical condition that affects nearly 15% of the world population. Non-obstructive azoospermia (NOA) is one of the most severe forms of male infertility. Some common structural variants, single nucleotide polymorphisms (SNPs), and genetic factors were reported to be associated with NOA. However, the underlying etiology and genetic mechanism(s) remain largely unclear. This report aimed to describe the associated mutation of the heat shock factor-2 (HSF2) gene in Chinese infertile men with NOA. PATIENT CONCERNS: An apparently healthy 27-year-old man with a body mass index (BMI) of 23.31 kg/m had a 2-year history of primary infertility. DIAGNOSES: The semen analysis of the patient showed a sperm concentration of 0/mL in 6.5 mL of semen. The patient was diagnosed with NOA by performing the comprehensive examinations including a detailed medical history, physical examination, chromosome analysis, Y-chromosome microdeletions, semen analysis, and hormone profiles. INTERVENTIONS: The couple received artificial insemination by donor (AID) and a healthy girl was born after the embryo transfer. OUTCOMES: We found a novel deletion-insertion variation c.326_326delinsGGAAGGTGAGCTATTGT in the exon 3 of the HSF2 gene by performing next-generation sequencing on him who was diagnosed NOA. We performed Sanger sequencing on this patient and confirmed the heterozygous missing insertion mutation in the patient. This is a novel mutation. The variant was heterozygous and categorized as pathogenic. LESSONS: A novel deletion-insertion variation c.326_326delinsGGAAGGTGAGCTATTGT in the exon 3 of HSF2 gene HSF2 is predicted to be pathogenic and associated with the occurrence of NOA.


Assuntos
Azoospermia/genética , Proteínas de Choque Térmico/genética , Mutação INDEL/genética , Fatores de Transcrição/genética , Adulto , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Análise do Sêmen
20.
Taiwan J Obstet Gynecol ; 59(4): 556-564, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32653129

RESUMO

OBJECTIVE: To indigenize the median of Down syndrome (DS) screening markers for first and second trimester, and compare the impact of the indigenized and built-in median data on the efficiency of DS screening. MATERIALS AND METHODS: Data derived from first and Second-trimester screening (FTS and STS) for DS, composed of selected pregnancies deemed to be normal, were examined in a retrospective study. Indigenization regression analysis was calculated by using five models to fit statistical the raw data. Multiple of median (MoM) values estimated by using indigenized medians were compared with those calculated by using built-in. RESULTS: This study established a regression equation which is more suitable for the median of each screening marker in the local pregnant women. The changes of median MoM of screening markers were statistically significant after indigenization. For FTS, the detection rate was 100% when the false positive rate was 5%, and the cut-off value was 1/262. On the other hand, for STS, the detection rate of the model with indigenized parameters was 77.42%, which is 16.13% higher than that of built-in parameters. CONCLUSION: For the individual specific risk of pregnancy, when the indigenized parameters was used to calculate, is more accurately and screening effectiveness has been improved. This is a great reference significance for the current prenatal screening whether indigenized data should be used.

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