Mosaic Variant of Turner Syndrome

Turner syndrome is the most common chromosomal abnormality leading to gonadal failure and primary amenorrhea. While half of the cases have monosomy of chromosome X, the remaining exhibit mosaicism resulting in wide variation of phenotypic characteristics and clinical manifestations. We present a case of a 24-year-old female with mosaic variant Turner syndrome. The diagnosis was confirmed by karyotype analysis and laparoscopy.

Comparison of biological characteristics of placenta mesenchymal stem cells derived from fetus / 生物工程学报

Mesenchymal stem cells (MSCs) have broad application potentials in regenerative medicine and translational medicine. Obtaining large quantities of primary-cultured MSCs and select the most suitable cell origin for targeted diseases are critical to research. To select the most suitable seed cells of MSCs from different origins for clinical treatment and research, biological characteristics of MSCs from human umbilical cord and placenta were compared. These include cell morphology, surface marker expression, differentiation and karyotype. Transcriptome sequencing of four MSCs from fetus were performed and the results were analyzed from the perspective of proliferation and cytokine secretion. The results revealed that MSCs from umbilical cord (UC), amniotic membrane (AM), chorionic membrane (CM), chorionic villi (CV) and deciduae (DC) met the minimum standards of the International Society of Cell Therapy (ISCT) in 2006 and had the general characteristics of stem cells. Karyotype analysis showed that MSCs derived from UC, AM, CM and CV were all from fetus except that the DC-MSCs were from mother. Transcriptome sequencing analysis showed that hMSCs from umbilical cord and placenta had similar gene expression patterns, while different expression patterns were observed in specific genes involved in cell cycle, cell division, cell death, cell growth and development. These genes play important roles in transcriptional regulation, DNA repair, DNA replication and chromosome stability, which were momentous components of cellular or subcellular fraction movement, cell communication, cell tissue protrusions, cytokine secretion and hormone metabolism. Transcriptome sequencing analysis explained the differences in biological characteristics among MSCs from different sources, while verification experiments based on the transcriptome sequencing results showed that the proliferation and cytokine secretion capabilities of MSCs from different sources were significantly different. In all, UC-MSCs and CV-MSCs with stronger proliferation and higher levels of paracrine factors secretion may show their respective advantages in treating diseases.

Value of detection of cell-free fetal DNA in maternal peripheral blood for Down's syndrome screening / 中国基层医药

Objective:To investigate the value of detection of cell-free fetal DNA in maternal peripheral blood for Down's syndrome screening.Methods:A total of 1667 pregnant women who were at a higher risk of having a baby with Down's syndrome who received Down's syndrome screening in the First People's Hospital of Datong between January 2020 and March 2021 were prospectively analyzed. After detection of cell-free fetal DNA in maternal peripheral blood, pregnant women who were at a higher risk of having a baby with Down's syndrome decided whether to accept amniocentesis for fetal karyotype. Then follow-up was performed for collecting related information. Finally, detection results of cell-free fetal DNA in maternal peripheral blood, fetal karyotype results and pregnancy outcomes were analyzed.Results:The positive predictive value of detecting cell-free fetal DNA in maternal peripheral blood for trisomy 21, trisomy 18, and trisomy 13 and chromosome abnormality were 100.0%, 100.0%, 0.0% and 66.7%, respectively. The sensitivity and total specificity of detecting cell-free fetal DNA in maternal peripheral blood were 100.0% and 99.8%, respectively. The false positive rate of detecting cell-free fetal DNA in maternal peripheral blood for trisomy 13 and chromosome abnormality was 0.12% and 0.06%, respectively.Conclusion:A high degree of coincidence between detection results of cell-free fetal DNA in maternal peripheral blood and fetal karyotype results can be used as a prenatal screening for Down's syndrome. This has certain guiding significance for invasive prenatal diagnosis through amniocentesis-based fetal karyotype analysis.

Application of prenatal bacterial artificial chromosome-on-beads identification/isolation technology in the diagnosis of chromosomal aneuploidy and microdeletion/microduplication syndrome / 中华检验医学杂志

Objective:To explore the indication of bacterial artificial chromosome-on-beads identification/separation technology in prenatal diagnosis and its application value.Methods:The inclusion criteria were as follows: age ≥35 years, high risk/critical risk of serological prenatal screening, high risk of non-invasive gene testing (NIPT), abnormal ultrasonic indexes or adverse pregnancy history. From April 2016 to December 2020, 3579 amniotic fluid samples collected from pregnant women with singletons were detected by bacterial artificial chromosome-on-beads identification/separation technique (BoBs) and G-banding karyotype analysis simultaneously. The aneuploid abnormality/microdeletion/microdeletion samples detected by karyotype analysis or BoBs were verified by fluorescence in situ hybridization (FISH)/SNP array as needed.Results:(1) The percentage of samples with indications of advanced maternal age, high risk of NIPT and high risk of serological screening was 89.44%(3 201/3 579), the detection rate of aneuploidy was 96.19%(202/210), and the detection rate of microdeletion/microduplication was 87.5%(28/32),the total abnormal detection rate was 95.04% (230/242). The samples with abnormal ultrasonic indexes, adverse pregnancy history and critical risk indications of serological screening in the second trimester accounted for 10.66%, and the abnormality of aneuploidy and micro-duplication/micro-deletion was 4.96%. (2) 198 common chromosome aneuploidies (13/18/21/X/Y) were detected by BoBs, and 12 cases with chimeras ≥20% were found, which were consistent with karyotype results. Two copies of 21-trisomy, three copies of X/Y, seven copies of 2, 7, 8, 9, 10, 20, mar karyotype chimerism, eight copies of arm inversion and five copies of translocation outside the detection range of probes were detected by karyotype analysis. The sensitivity, specificity and false negative rate of BoBs detection for five aneuploidies were 94.6%(210/222), 100% and 5.4%(12/222), respectively. BoBs and karyotype analysis detected 32 and 9 cases of microdeletions/microduplications respectively. Compared with single karyotype analysis, the combined application of G-banding karyotype analysis and BoBs can detect an additional 9.4% (23/244)positive samples.Conclusion:The samples with elder age, high risk of NIPT, and high risk of serological screening are more suitable as indications for the application of BoBs in prenatal diagnosis.

Síndrome de deleção 6q: relato de caso de um achado raro no Amazonas, Brasil / Deletion 6q syndrome: case report of a rare finding in Amazonas, Brazil

Objetivos: Síndrome da deleção 6q é considerada uma anomalia cromossômica rara. Assim, nosso objetivo foi relatar um caso de um menino com essa síndrome, em Manaus/Amazonas. Descrição do caso: Menino com quatro anos de idade que apresenta atraso do crescimento e do desenvolvimento neuropsicomotor, dificuldades de ganho de peso e anormalidades na retina. A análise citogenética do paciente revelou cariótipo com 46, XY, del(6)(q25-qter). Conclusões: Este relato demonstrou a importância das análises citogenéticas para o diagnóstico preciso das anomalias congênitas, pois auxiliam no encaminhamento de tratamentos adequados aos pacientes e na ampliação de conhecimento científico relacionado a essa deleção.

Aims: Deletion 6q syndrome is considered a rare chromosomal anomaly. Thus, our objective was to report a rare case of a boy with 6q deletion syndrome. Case description: 4-year-old boy with delayed growth and neuropsychomotor development, weight gain difficulties and retinal abnormalities. Karyotypic analysis of the patient revealed karyotype 46, XY, del (6) (q25-qter). That is, a deletion in the long arm of one of the chromosome 6, specifically in the distal region of the long arm of the 6q25 band up to the 6qter band. Conclusions: This report demonstrates the importance of cytogenetic analyzes for the accurate diagnosis of congenital anomalies, as they assist in referring appropriate treatments to patients and in expanding scientific knowledge related to this deletion.

A novel missense mutation (c.1006C>T) of SPG20 gene associated with Troyer syndrome

The number of gene mutations involved in the hereditary spastic paraplegias is rapidly growing due to the expansion of the frontiers of genomic research by next-generation DNA sequencing platforms. Nevertheless, a comprehensive genetic diagnosis method remains yet unavailable for these diseases. In the current research, an 8-year-old boy with short stature and developmental delay impairment, from a nonconsanguineous family, was referred to our genetic lab. Firstly, based on the physician recommendation, the patient was evaluated by tandem mass spectrometry (MS/MS) for the quantitative examination of amino acids, and then the patient was genetically investigated by karyotype analysis and whole-exome sequencing (WES) technique. Subsequently, targeted Sanger sequencing was applied to confirm the presence of the candidate variant in all the members of the family and screening the other patients for Troyer syndrome. Analysis of inherited metabolic disorders by tandem MS/MS showed the state of all the family members as normal and also karyotyping indicated no chromosomal aberration in the patient. Further investigation by WES technique indicated a homozygous missense variant in the SPG20 gene, c.1006C[T. Targeted sequencing result of the mutation confirmed homozygote state for the affected case and a heterozygote genotype for his parents. The mutation was classified as pathogenic. Detection of novel variants especially pathogenic variant in the SPG20 gene was associated with Troyer syndrome, which encodes a multifunctional protein termed Spartin, assist in improving genotype–phenotype correlation of genetic variants and may facilitate initial diagnosis of Troyer syndrome

Genetic background of human lactoferrin transgenic goats / 生物工程学报

The genetic background such as copy number, integration site and chromosome karyotype of exogenous genes of transgenic animals obtained by random integration is still unclear. There may be some problems such as silent integration, invalid integration, toxic integration and unpredictable expression level of exogenous genes. In this study, six primary (F0) and their corresponding offspring (F1) of human lactoferrin (hLF) transgenic goats were selected as the research objects, and blood samples were collected from jugular vein and DNA were extracted. The genetic background and expression level of exogenous genes were studied by chromosome karyotype analysis, real-time quantitative PCR (qPCR), ELISA and Western blotting. The chromosomes of six F0 transgenic goats had no obvious morphological variation, number change and other abnormalities. The relative copy number was different (2-16) and could be steadily inherited to the next generation. The copy number of F0 and F1 hLF gene was the same. The highest expression level of hLF was 1.12 g/L in F1 transgenic goats (L3-1, 8 copies). The results proved that the integrated exogenous genes could steadily inherit the next generation, and did not cause obstacles to the growth and development of transgenic goat individuals. Moreover, there was no obvious correlation between the number of copies and the expression level of hLF. This laid a foundation for the new varieties cultivation of transgenic goats and other transgenic animals, and analysis of genetic background.

Analysis for common chromosomal breakpoint regions among 586 carriers of reciprocal translocations from Henan Province / 中华医学遗传学杂志

Objective@#To determine the frequency, common chromosomal karyotypes and breakpoints, and involved regions among carriers of reciprocal translocations from Henan Province, and to explore the influence of common breakpoint regions on pregnancy and fetal development.@*Methods@#For 586 carriers of reciprocal translocations, the above features were retrospectively analyzed.@*Results@#The 586 reciprocal translocations were identified among 62 477 subjects, which yielded a frequency of 0.94%. Among these, 572 (0.92%) had abnormal fertility, and 14 (0.02%) had a history of abnormal fetal development. Statistical analysis showed that chromosomes 1, 4, 7 and 11 were most frequently involved, with t(11; 22)(q25; q13) being the most common type of translocation. In total 437 breakpoint regions were identified, with 11q23, 22q13 and 1p36 being most frequently involved, which resulted in infertility, abortion, embryo death, congenital malformation, development delay, mental retardation or a normal phenotype.@*Conclusion@#Above results indicated a 0.92% carrier rate for reciprocal chromosomal translocations in Henan. The location of breakpoint regions may affect the pregnancy and/or fetal development. Discovery of such regions may enable more accurate genetic, reproductive and developmental counseling for carriers, and provide reference for delineation of function and pathogenetic mechanism of the relevant genes.

Clinical and cyto-molecular genetics analysis of trisomy 12p in neonates: a case report / 临床儿科杂志

Objective To explore the clinical features, cytogenetic and molecular genetics characteristics of trisomy 12 p in neonates. Method The clinical data were reviewed in a neonate with trisomy 12 p confirmed by routine G-banding chromosome karyotype analysis, high throughput sequencing chromosome copy number variation analysis (CNV) and lymphocyte interphase fluorescence in situ hybridization (FISH) . Results The chromosome karyotype in peripheral blood of the neonate was 47, XX, +mar, and the karyotypes of her parents were normal. CNV detected a regional duplication of 12 p13.33-p11.1 (160001-34860000) with a fragment size of 34.7 Mb. Peripheral blood lymphocyte interphase FISH showed that there were 3 signals in the short arm of chromosome 12 in all interphase nuclei of the neonate, and no chimera existed. It was finally confirmed to be trisomy 12 p. Conclusion The combination of clinical features, peripheral blood karyotype analysis, CNV and FISH techniques can effectively confirm the diaganosis of trisomy 12 p.

A case of maternal 45, X/46, XX mosaicism detected by non-invasive prenatal testing / 中华医学遗传学杂志

Objective@#To report on a case of maternally derived 45, X mosaicism detected by non-invasive prenatal testing (NIPT).@*Methods@#Fetal sex chromosomal abnormality was detected by NIPT. Maternally derived 45, X mosaicism was confirmed by chromosome karyotype analysis. Fetal sex chromosome aneuploidy was detected by amniotic fluid chromosome microarray analysis.@*Results@#A maternal 45, X mosaicism was diagnosed. The fetus was confirmed to be normal.@*Conclusion@#Maternal 45, X masaicism can be diagnosed by NIPT.

Comparative study of copy number variation sequencing and karyotype analysis in detection of chromosome abnormality / 西安交通大学学报(医学版)

Objective: To explore the clinical application of copy number variation sequencing (CNV-seq) and karyotype analysis in detection of chromosome abnormality. Methods: Chromosome of 42 patients was analyzed by karyotype analysis and CNV-seq. The advantages and limitations of the two methods were observed and compared. Results: We detected 7 cases of copy number variation by CNV-seq and the case detection rate was 16.67%. We detected cases of chromosomal anomalies by karyotype analysis, which included 6 cases of structural chromosome aberration and 2 cases of chromosome numerical abnormality. The case detection rate of karyotype analysis was 19.04%. Moreover, 4 cases of chromosome polymorphism were analyzed. Conclusion: CNV-seq can be applied in examining the abnormal chromosome number and structural aberrations, especially in providing clinically significant cytogenetic information that is difficult to be determined by karyotype analysis. It can also analyze chromosome microdeletion and microduplication syndrome with a chromosome resolution of 0.1 Mb. However, CNV-seq fails to identify balanced chromosomal translocation and inversion. Therefore, a combination of karyotype analysis and CNV-seq will provide accurate clinical diagnosis for patients with chromosome abnormality.

A 3-year follow-up cytogenetic observation on victims exposed to iridium-192 in a radioactive sourcer-loss accident in Nanjing City / 中国职业医学

OBJECTIVE: To observe the decay law of chromosome aberrations after 3 years iridium-192 radiation exposure in victims of Nanjing “5.7” radiation accident. METHODS: The peripheral blood of victims was collected 3 years after iridium-192 radiation exposure. The routine chromosome aberration analysis, micronucleus analysis and G-banding karyotype analysis were used to detect the chromosomal instability rate, the binuclear micronucleus rate and the stability distortion rate. A dose reconstruction was carried out based on the distortion results. RESULTS: The aberration frequency of dicentric(dic) and centric rings(r) was 6.5% after 3 years iridium-192 radiation exposure, which decreased to 31.0% at 6 days after exposure(the aberration frequency of dic and r was 21.0%). The estimated biological dose based on the aberration frequency of dic and r was 0.75 Gy, which is about 50.0% of the initial estimated dose(1.52 Gy) at 6 days after exposure. The micronucleus rate of the binuclear lymphocytes was 63.0‰, and the estimated biological dose based on the micronucleus rate was 0.71 Gy, which was similar to the estimated dose of aberration frequency of dic and r. The total frequency of chromosome aberration observed by karyotype analysis of G-bands by trypsin using Giemsa was 41.0%, the stability aberration frequency was 30.0%, and the translocation frequency was 15.0%. The result of dose reconstruction based on the translocation frequency was 1.50-1.89 Gy, which was very close to the initial estimated dose(1.52 Gy). CONCLUSION: The decay of unstable chromosome aberration may be influenced by many factors, more detailed data need to be accumulated to study the decay law. The use of stable chromosomal aberrations, especially translocation frequencies used in dose reconstruction in earlier exposures, is an ideal method.

Establishment and genomic characterization of a novel retinoblastoma cell line without RB1 mutationderived from a Han Chinese donor / 上海交通大学学报（医学版）

Objective: To develop and characterize a novel retinoblastoma cell line from a Han Chinese patient. Methods: Cells were dispersed from tumor tissue harvested from an enucleated eyeball harbouring retinoblastoma under sterile conditions. The dissociated cells were cultured, purified and passaged in vitro. Morphologic and genetic analysis and detection of surface biomarkers were performed on the cell line and primary tumor by immunofluorescence, immunohistochemical staining, DNA short tandem repeat (STR) analysis, karyotype analysis, and exome sequencing. Results: This human retinoblastoma cell line was designated as SNPH-Rb-C24. It expressed neural cell adhesion molecule 1 and synaptophysin, which confirmed its neuronal derivation. DNA STR analysis showed an identical match between SNPH-Rb-C24 and primary tumor. Karyotype analysis showed complex chromosomal abnormalities in SNPH-Rb-C24, while no alteration in 13q was observed. Comparative exome sequencing identified common mutated genes and RB1+/+ in both SNPH-Rb-C24 and primary tumor. Orthotopic xenograft tumors derived from early passage cells were established. Conclusion: A human retinoblastoma cell line (SNPH-Rb-C24) derived from a Han Chinese patient with RB1+/+ retinoblastoma is developed, which retains critical biological and genomic features of the donor tumor.

Clinical study of MLPA technology combined with chromosomes karyotype analysis in detecting child development disorders / 国际检验医学杂志

Objective To study the clinical application value of the multiple link dependency probe amplification (MLPA) technology combined with chromosomes karyotype analysis in detecting child development abnormalities .Methods 87 children of growth and development abnormality were collected .Peripheral blood samples were extracted for conducting traditional G -banded karyotype analysis .Moreover the MLPA technique was applied to conduct the chromosome microdeletion detection .The chromo-some situation in children of development abnormality was analyzed .Results Among 87 children patients ,22 cases of abnormal karyotype were detected out ,the abnormality rate was 25 .3% ,including 10 cases of small Y chromosome karyotype(46 XY) ,2 cases of Turner syndrome ,2 case of 45 ,X karyotype ,1 case of 45 ,X/46 ,XY karyotype ,1 case of46 ,XY/45 ,XX karyotype ,1 case of 47 , XXY karyotype ,etc .Among 65 cases of normal karyotype ,microdeletion/microduplication was still found in 8 cases by MLPA . Conclusion The MLPA technology combined with karyotype analysis provide an effective and accurate detection flow process for clinically diagnosing child development abnormality and is conducive to increase the detection rate and accuracy of chromosomal abnormality .

Karyotype Analysis/Genetic Testing in Children Suspected with Hereditary Disease / 中国康复理论与实践

Objective To apply karyotype analysis/genetic testing in children suspected with hereditary disease. Methods From July, 2014 to July, 2016, a total of 47 cases in our department were tested using G-banding karyotype analysis or selected the relevant genetic package, for screening the related diseases. Results 38 cases received karyotype analysis, in which three cases were abnormal, and one case was diagnosed definitely. And nine cases received related genetic testing, in which seven cases were abnormal, and four cases were diag-nosed definitely. Totally, the positive rate was 21.28%, and the diagnosis rate was 10.64%. Conclusion Karyotype analysis/genetic testing is an etiological diagnosis method for highly suspected hereditary disease in children.

A patient with intractable epilepsy due to ring chromosome 20 syndrome and prenatal diagnosis for his sibling / 中华实用儿科临床杂志

Objective To investigate the clinical features,karyotype,and the prenatal diagnosis for his sibling of a Chinese patient with rare ring chromosome 20 syndrome induced intractable epilepsy.Methods The clinical data of the patient diagnosed in Peking University People's Hospital were collected.The clinical manifestations,chromosome karyotype were summarized.Results The proband,a boy,started to show intermittent tonic seizures or atypical absence seizures and psychomotor retardation from the age of 11 months.Several anti-epilepsy drugs and globulin had been tried without effect.Common karyotype analysis and epilepsy-related genes analysis revealed no abnormality.However,abnormal karyotype 46,XY,r(20)(p13q13.3) in his peripheral blood lymphocytes was found by high resolution chromosome karyotype analysis with 550 G-banding,and the diagnosis of ring chromosome 20 syndrome,type Ⅱ was confirmed.The mother of the patient underwent amniocentesis at the midterm of the second pregnancy.The cultured amniocytes karyotypes were normal.The second child(a boy) of the family was 1 year old without epilepsy and the psychomotor development was normal.Conclusions Ring chromosome 20 syndrome is a rare human chromosome abnormality.The syndrome is associated with epileptic seizures,behavior disorders and mental retardation.Since karyotype testing is not a routine investigation for the patient with epilepsy,the diagnosis of ring chromosome 20 syndrome is usually delayed or misdiagnosed.The karyotype analysis should be considered for the etiological study of the patients with intractable epilepsy with unknown origin.

Karyotype and evolutionary trend analysis of Scutellaria species in Jinyun mountain, Chongqing / 中国中药杂志

Traditional squash method was used to analyze chromosome number and karyotypes of four Scutellaria species in Chongqing Jinyun Mountain Natural Reserve： Scutellaria tsinyunensis, S.yunnanensis, S.franchetiana and S.indica.The result showed that the chromosome numbers were 26 except for S.franchetiana, which had 24 chromosomes.These species were all diploid with metacentric and submetacentric chromosomes.Their karyotypes were symmetrical and primitive.The karyotype formula of S.tsinyunensis is 2n=2x=26=24m+2sm, 1B type, As.k=55.28%; the karyotype formula of S.yunnanensis var.salicifolia is 2n=2x=26=26m, 1B type, As.k=56.11%; the karyotype formula of S.franchetiana is 2n=2x=24=20m+4sm, 2B type, As.k=58.50%; the karyotype formula of S.indica is 2n=2x=24=20m+4sm, 2B type, As.k=58.41%.The results were compared with the reported data of S.baicalensis and S.alaschanica.S.alaschanica is expected to be the most advanced one whereas S.tsinyunensis, and S.yunnanensis var. salicifolia primitive.These results are expected to provide some references to the origin and differentiation of genus Scutellaria.

Villi Chromosome High-throughput Gene Sequencing of 52 Cases of Missed Abortion / 现代医院

Objective To understand the relationship between embryonic chromosomal abnormalities and missed abortion by high-throughput gene sequencing, so as to provide a basis for guiding the next pregnancy.Meth-ods By chromosome detection on villi chromosome of 52 cases of missed abortion by high-throughput gene sequen-cing technique, the types of chromosome abnormalities and the proportion were investigated.Results Among villi samples from the 52 cases of missed abortion, chromosomal abnormalities were founded in 28 cases, including 24 ca-ses of number abnormality (17 cases of trisomy, 6 cases of triploid and a case of monomer) and 4 cases of structural abnormalities.Conclusion Embryonic chromosomal abnormality is the main cause of missed abortion in early preg-nancy.High-throughput gene sequencing technology used to detect the villi chromosome is comprehensive, fast and accurate, helping to clarify the cause of missed abortion and guide the next pregnancy reasonably.

Clinical application of high-throughput gene sequencing technology and STR in chromosome karyotype analysis of the villus tissues of spontaneous abortion of spontaneous abortion / 中国综合临床

Objective To analyze the clinical application of high?throughput gene sequencing technolo?gy and STR in chromosome karyotype analysis of the villus tissues of spontaneous abortion. Methods In 27 ca?ses of spontaneous abortion after pregnancy,classic cell of villus tissues culture and chromosomal karyotype anal?ysis,and high ?throughput gene sequencing technology and STR were performed,and then compared the analysis results of two methods. Results ( 1) The successful rate of cell of villus tissues culture and chromosomal karyo?type analysis was 85%( 23/27) ,of high?throughput gene sequencing technology and STR was 96%( 26/27) ,and the difference was not significant( P>0. 05) ( 2) In the 4 cases that failed in karyotype analysis,there were 3 ca?ses showed abnormal chromosomal number variation( CNV) in high?throughput gene sequencing technology and STR. ( 3) Of the 23 cases,chorionic villus was successfully cultured in 10 cases,abnormal karyotypes were iden?tified in 13 cases,the positive rate was 57%. Of the 26 cases,high?throughput gene sequencing technology and STR was successfully checked in 3 cases,abnormal CNV were identified in 23 cases,the positive rate was 85%, the difference was significant(χ2=6.387,P<0.05). (4)The rates of chromosomal number abnormality were 52%( 12/23) and 50% ( 13/26) of karyotype analysis and chromosome aberration detection,respectively. In 10 cases of normal cell culture karyotype,there were 7 cases in the presence of micro deletion / micro repetition de?tected by high?throughput gene sequencing technology and STR. Conclusion The method of massively parallel sequencing in chromosome analysis,compared with the method of cell of villus tissues culture and chromosome a?nalysis,can be accurate and quick,and has high successful rate in detecting the chromosome of non aneuploid and deletion/duplication abnormality,which can be a good complementary and alternative method of the classic cell of villus tissues culture and chromosome karyotype analysis.

Application of improved chromosome short-term culture method in the chromosome karyotype analysis of leukemia patients / 西安交通大学学报(医学版)

Objective To make the chromosome karyotype analysis of 130 patients with leukemia by using the improved chromosome short-term culture method.Methods We optimized the main factors with a single factor gradient experiment in short-term culture of bone marrow chromosome, including colchicines concentration, duration of action of colchicines,and hypotonic time.On this basis,we conducted the three-factors and three-level orthogonal experiment to achieve improved bone marrow chromosome preparation system,which was later applied in 130 patients with leukemia in our hospital.Results The orthogonal experiment results showed that the optimum conditions were colchicines concentration of 0.07 μg/mL,colchicines action time of 80 min,and hypotonic time of 35 min during the preparation of the bone marrow chromosome.Using this method,the chromosome preparation success rate reached 97.69% and the detection rate of abnormal karyotype reached 82.3% in the chromosome karyotype analysis.Conclusion Bone marrow chromosome preparation system with colchicines concentration of 0.07 μg/mL and colchicines action time of 80 min,and hypotonic time of 35 min is worthy of clinical promotion.