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1.
Article in Chinese | WPRIM | ID: wpr-921993

ABSTRACT

OBJECTIVE@#To explore the clinical effect of expanded non-invasive prenatal testing (NIPT-plus) for prenatal screening.@*METHODS@#The screening result, prenatal diagnosis and pregnancy outcome of 3700 pregnant women who volunteered NIPT-plus screening at our center from September 2018 to December 2019 were reviewed.@*RESULTS@#Among the 3700 pregnant women, 74(2.0%) were scored positive for clinically significant fetal chromosomal abnormalities and underwent NIPT-plus screening. Sixty three women with a high risk underwent invasive prenatal diagnosis, among whom 19 were diagnosed, which yielded a positive predictive value (PPVs) of 30.2% (19/63). Statistical analysis showed that NIPT-plus has higher PPVs for common aneuploidies and low-to-medium PPVs for sex chromosome aneuploidies and microdeletion/microduplication syndromes.@*CONCLUSION@#As a screening technique, NIPT-plus has broader applications compared with conventional techniques, and has reference value for clinicians and pregnant women during pregnancy.


Subject(s)
Aneuploidy , Chromosome Aberrations , Female , Humans , Pregnancy , Pregnancy Outcome , Prenatal Diagnosis , Sex Chromosome Aberrations
2.
Article in Chinese | WPRIM | ID: wpr-879577

ABSTRACT

OBJECTIVE@#To analyze the indication, karyotyping result, ultrasound finding, pregnancy decision and follow-up of fetuses with sex chromosome aneuploidies (SCA) detected by non-invasive prenatal testing (NIPT) during early and midterm pregnancies.@*METHODS@#The results of 225 singleton pregnancies with fetal SCA detected by NIPT were reviewed and analyzed.@*RESULTS@#The 225 cases included 45,X (n=37), 47,XXY (n=74), 47,XXX (n=50), 47,XYY (n=56) and mosaicisms (n=8), among which 121 (53.8%) have opted to terminate the pregnancy, including 45,X (n=31), 47,XXY (n=61), 47,XXX (n=14), 47,XYY (n=12) and 3 mosaicisms. The remainder 104 (46.2%) have elected to continue with the pregnancy, among which three have opted to terminate due to abnormalities detected by ultrasonography, and two had spontaneous abortions.@*CONCLUSION@#NIPT as a first-tier screening method can effectively detect fetal trisomies 21, 13 and 18 as well as SCA. The types of fetal SCA and presence of ultrasound abnormalities are critical factors for the termination of pregnancy.


Subject(s)
Aneuploidy , Down Syndrome , Female , Fetus , Humans , Pregnancy , Prenatal Diagnosis , Sex Chromosome Aberrations , Trisomy
3.
Braz. j. med. biol. res ; 53(3): e8980, 2020. tab
Article in English | LILACS | ID: biblio-1089344

ABSTRACT

The mosaic 45,X/46,XY karyotype is a common sex chromosomal abnormality in infertile men. Males with this mosaic karyotype can benefit from assisted reproductive therapies, but the transmitted abnormalities contain 45,X aneuploidy as well as Y chromosome microdeletions. The aim of this study was to investigate the clinical and genetic characteristics of infertile men diagnosed with 45,X/46,XY mosaicism in China. Of the 734 infertile men found to carry chromosomal abnormalities, 14 patients were carriers of 45,X/46,XY mosaicism or its variants, giving a prevalence of 0.27% (14/5269) and accounting for 1.91% (14/734) of patients with a chromosomal abnormality. There were ten cases (71.43%, 10/14) of 45,X mosaicism exhibiting AZF microdeletions. Case 1 and Case 4 had AZFc deletions, and the other eight cases had AZFb+c deletions. A high frequency of Y chromosome microdeletions were detected in male patients with 45,X/46,XY mosaicism. Preimplantation genetic diagnosis should be offered to men having intracytoplasmic sperm injection for hypospermatogenesis caused by 45,X/46,XY mosaicism, to avoid the risk of transfering AZF microdeletions in addition to X monosomy in male offspring.


Subject(s)
Humans , Male , Adult , Middle Aged , Sex Chromosome Disorders of Sex Development/genetics , Infertility, Male/genetics , Mosaicism , Sex Chromosome Aberrations , China , Polymerase Chain Reaction , Chromosome Deletion , Chromosomes, Human, Y/genetics , Karyotyping
4.
Article in Chinese | WPRIM | ID: wpr-879472

ABSTRACT

OBJECTIVE@#To explore the genetic basis of three children with disorders of sex development (DSD) in association with rare Y chromosome rearrangements.@*METHODS@#The three children, who all featured short stature and DSD, were subjected to G banding chromosomal karyotyping, multiplex PCR for Y chromosomal microdeletion, sequencing of the whole SRY gene, SNP-array analysis for genomic copy number variations, and fluorescence in situ hybridization (FISH).@*RESULTS@#The combined analysis revealed chromosomal abnormalities in all of the three children, including 46,X,t(X;Y)(p22.3;q11.2) in case 1, mos 45,X,der(7)pus dic(Y:7)(p11.3p22)del(7)(p21.2p21.3) del(7)(p12.3p14.3) [56]/45,X [44] in case 2, and mos 45,X [50]/46,X,idic(Y)(q11.22) [42]/47,X,idem×2 [4]/47,XYY [2] in case 3.@*CONCLUSION@#Combined use of genetic techniques can delineate complex rearrangements involving Y chromosome in patients featuring short stature and DSD. Above findings have enabled molecular diagnosis and genetic counseling for the patients.


Subject(s)
Child , Chromosome Banding , Chromosomes, Human, Y/genetics , DNA Copy Number Variations , Humans , In Situ Hybridization, Fluorescence , Male , Polymorphism, Single Nucleotide , Sex Chromosome Aberrations , Sex Chromosome Disorders of Sex Development/genetics
5.
Rev. Asoc. Méd. Argent ; 132(1): 7-19, Mar. 2019. ilus, tab, graf
Article in Spanish | LILACS | ID: biblio-1009926

ABSTRACT

Se presenta el caso clínico de un lactante fallecido a los siete meses de edad con cuadro intersticial persistente. Objetivos: describir detalladamente el camino diagnóstico; alertar sobre posibles confusiones en recién nacidos con diagnósticos más frecuentes; detallar los hallazgos clínicos, radiológicos y de anatomía patológica (consultas en el exterior). Metodología: sumatoria de estudios complejos para descartar causas más frecuentes de patología intersticial en el lactante; consultas radiológicas, de anatomía patológica y genética en el exterior del país. Resultado: con diagnóstico de PAP (proteinosis alveolar pulmonar) se encontró una duplicación de material genético a nivel de cromosoma X, correspondiente al gen CSF2RA (colony stimulating factor 2-subunidad a). Este gen codifica al receptor CSF2 cuya citoquina controla la producción, diferenciación y función de granulocitos/macrófagos. (AU)


A clinical case of a deceased seven month old infant presenting persistent interstitial lung compromise is presented. Objectives. Detailed description of the diagnostic pathway used; to alert about possible confusion with other ­ more frequent ­ pathologies in the new borninfant age; to present clinical, radiological, genetic and pathology findings (consultations abroad). Methodology. A complete description of complex studies to rule out other more frequent pathologies is presented together with radiological, pathological and genetic results from consultations abroad. Results. A diagnosis of PAP (pulmonary alveolar proteinosis) was confirmed with duplication of genetic material at CSF2RA gene (colony stimulating factor 2-subunit a). This gene codifies the CSF2 receptor whose cytokine controls production, differentiation and function of granulocytes/macrophages. (AU)


Subject(s)
Humans , Male , Infant, Newborn , Infant , Lung Diseases, Interstitial/diagnosis , Lung Diseases/diagnosis , Lung Diseases/genetics , Lung Diseases/pathology , Lung Diseases/diagnostic imaging , Sex Chromosome Aberrations , Pulmonary Surfactants , Tomography, X-Ray Computed , Follow-Up Studies , Genetic Techniques , Lung Diseases, Interstitial/genetics , Diagnosis, Differential , Lung/pathology , Mutation/genetics
6.
Article in Chinese | WPRIM | ID: wpr-776732

ABSTRACT

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.


Subject(s)
Aneuploidy , Female , Humans , Karyotyping , Mosaicism , Pregnancy , Prenatal Diagnosis , Sex Chromosome Aberrations
7.
Article in Chinese | WPRIM | ID: wpr-819033

ABSTRACT

OBJECTIVE@#To analyze the impact of maternal age on sex chromosome aneuploidies (SCA).@*METHODS@#Pregnant women who had karyotype analysis of amniotic fluid in Women's Hospital, Zhejiang University School of Medicine from January 2014 to July 2018 were recruited. The association of the maternal age with fetal SCAs was analyzed.@*RESULTS@#The incidence of 45, X in age group >34-28-34 (28-34 (0.05). After excluding the high risk of sex chromosome abnormalities by non-invasive prenatal testing (NIPT), we found that for 45, X, the incidences of two groups with advanced age were lower than that of ≤ 28 year-old group of age group (34-28-34 (<0.05). The other results were consistent with those without excluding the high risk of sex chromosome abnormalities by NIPT.@*CONCLUSIONS@#Advanced age decreases the incidence of 45, X, but increases the risk of sex chromosome trisomy, especially 47, XXX and 47, XXY.


Subject(s)
Adult , Age Factors , Female , Humans , Maternal Age , Pregnancy , Prenatal Diagnosis , Sex Chromosome Aberrations , Sex Chromosomes , Genetics , Trisomy
8.
National Journal of Andrology ; (12): 817-820, 2017.
Article in Chinese | WPRIM | ID: wpr-812872

ABSTRACT

Objective@#To investigate the association of the abnormal length of human Y chromosome with semen quality and the outcome of assisted reproductive technology (ART).@*METHODS@#Based on the karyotype, we assigned the patients undergoing ART to a normal control, a long Y chromosome (Y>18), and a short Y chromosome group (Y18 group showed a significantly lower incidence rate of asthenozoospermia (31.03% vs 8.33%, P 18 and Y0.05).@*CONCLUSIONS@#Short Y chromosome may affect spermatogenesis, but the length of Y chromosome does not negatively influence the outcome of ART.


Subject(s)
Asthenozoospermia , Genetics , Azoospermia , Genetics , Chi-Square Distribution , Chromosomes, Human, Y , Female , Humans , Karyotype , Karyotyping , Male , Pregnancy , Pregnancy Rate , Reproductive Techniques, Assisted , Semen , Semen Analysis , Reference Standards , Sex Chromosome Aberrations , Spermatogenesis , Treatment Outcome
9.
Article in Chinese | WPRIM | ID: wpr-345324

ABSTRACT

<p><b>OBJECTIVE</b>To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome.</p><p><b>METHODS</b>607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed.</p><p><b>RESULTS</b>Among the 607 cases, there were 154 cases with monosomy X (25.37%). Mosaicism monosomy X was found in 240 patients (39.54%), which included 194 (80.83%) with a low proportion of 45,X (3 ≤ the number of 45, X ≤5, while the normal cells ≥ 30). Structural X chromosome abnormalities were found in 173 patients (28.50%). A supernumerary marker chromosome was found in 40 cases (6.59%). Most patients with typical manifestations of Turner syndrome were under 11 years of age and whose karyotypes were mainly 45,X. The karyotype of patients between 11 and 18 years old was mainly 45,X, 46,X,i(X)(q10) and mos45,X/46,X,i(X)(q10), which all had primary amenorrhea in addition to the typical clinical manifestations. The karyotype of patients over 18 years of age were mainly mosaicism with a low proportion of 45,X, whom all had primary infertility. 53 patients had a history of pregnancy, which included 48 with non-structural abnormalities of X chromosome and 5 with abnormal structure of X chromosome.</p><p><b>CONCLUSION</b>Generally, the higher proportion of cells with an abnormal karyotype, the more severe were the clinical symptoms and the earlier clinical recognition. Karyotyping analysis can provide guidance for the early diagnosis of Turner syndrome, especially those with a low proportion of 45,X.</p>


Subject(s)
Abortion, Spontaneous , Genetics , Adolescent , Adult , Amenorrhea , Genetics , Child , Child, Preschool , Chromosomes, Human, X , Genetics , Cytogenetic Analysis , Methods , Female , Humans , Infant , Infant, Newborn , Karyotyping , Middle Aged , Mosaicism , Pregnancy , Sex Chromosome Aberrations , Turner Syndrome , Genetics , Pathology , Young Adult
10.
Einstein (Säo Paulo) ; 14(4): 534-540, Oct.-Dec. 2016. tab
Article in English | LILACS | ID: biblio-840281

ABSTRACT

ABSTRACT Objective To evaluate the incidence of Y-chromosome microdeletions in individuals born from vasectomized fathers who underwent vasectomy reversal or in vitro fertilization with sperm retrieval by epididymal aspiration (percutaneous epididymal sperm aspiration). Methods A case-control study comprising male children of couples in which the man had been previously vasectomized and chose vasectomy reversal (n=31) or in vitro fertilization with sperm retrieval by percutaneous epididymal sperm aspiration (n=30) to conceive new children, and a Control Group of male children of fertile men who had programmed vasectomies (n=60). Y-chromosome microdeletions research was performed by polymerase chain reaction on fathers and children, evaluating 20 regions of the chromosome. Results The results showed no Y-chromosome microdeletions in any of the studied subjects. The incidence of Y-chromosome microdeletions in individuals born from vasectomized fathers who underwent vasectomy reversal or in vitro fertilization with spermatozoa recovered by percutaneous epididymal sperm aspiration did not differ between the groups, and there was no difference between control subjects born from natural pregnancies or population incidence in fertile men. Conclusion We found no association considering microdeletions in the azoospermia factor region of the Y chromosome and assisted reproduction. We also found no correlation between these Y-chromosome microdeletions and vasectomies, which suggests that the assisted reproduction techniques do not increase the incidence of Y-chromosome microdeletions.


RESUMO Objetivo Avaliar a incidência de microdeleções do cromossomo Y em indivíduos nascidos de pais vasectomizados submetidos à reversão de vasectomia ou fertilização in vitro com recuperação de espermatozoides por aspiração do epidídimo (aspiração percutânea de espermatozoides do epidídimo). Métodos Estudo caso-controle que compreende crianças do sexo masculino de casais em que o homem havia sido previamente vasectomizado e escolheu reversão da vasectomia (n=31) ou fertilização in vitro com recuperação espermática por aspiração percutânea de espermatozoides do epidídimo (n=30) para obtenção de novos filhos, e um Grupo Controle de crianças do sexo masculino de homens férteis com vasectomia programada (n=60). A pesquisa de microdeleções do cromossomo Y foi realizada por reação em cadeia da polimerase nos pais e filhos, avaliando 20 regiões do cromossomo. Resultados O resultado não revelou microdeleções do cromossomo Y em qualquer indivíduo estudado. A incidência de microdeleções do cromossomo Y em indivíduos nascidos de pais vasectomizados que sofreram reversão de vasectomia ou fertilização in vitro com espermatozoides recuperados pela aspiração percutânea de espermatozoides do epidídimo não diferiu entre os grupos, e não houve nenhuma diferença entre indivíduos controle nascidos de gestações naturais ou incidência populacional em homens férteis. Conclusão Não foi encontrada nenhuma associação considerando microdeleções da região do fator de azoospermia no cromossomo Y e reprodução assistida. Não houve correlação entre microdeleções do cromossomo Y e vasectomia, o que sugere que as técnicas de reprodução assistida não aumentam a incidência de microdeleções do cromossomo Y.


Subject(s)
Humans , Male , Female , Adult , Aged, 80 and over , Vasovasostomy/adverse effects , Fertilization in Vitro , Sperm Retrieval , Sex Chromosome Disorders of Sex Development/epidemiology , Infertility, Male/epidemiology , Sex Chromosome Aberrations , Brazil/epidemiology , Case-Control Studies , Incidence , Chromosome Deletion , Sperm Injections, Intracytoplasmic , Chromosomes, Human, Y/genetics , Azoospermia/genetics , Fathers , Sex Chromosome Disorders of Sex Development/genetics , Infertility, Male/genetics
11.
Article in Chinese | WPRIM | ID: wpr-247731

ABSTRACT

<p><b>OBJECTIVE</b>To explore the source of small supernumerary marker chromosome in a case.</p><p><b>METHODS</b>G-banded karyotyping, fluorescence in situ hybridization, multiple sequence tagged sites (STS) of the Y chromosome, and Illumima Human Cyto SNP-12 Beadchip analysis were carried out.</p><p><b>RESULTS</b>The karyotype was mos 46,X,+mar1[21]/46,X,+mar2[78]. Y chromosome STS analysis has displayed the presence of sy84, sY86, USP9Y and DDX3Y genes from the AZFa region, and sY1227 of the AZFb region, while sY1228, sY1015, sY127, sY134 from the AZFb region, and sY254 and sY255 from the AZFc region were missing. FISH analysis has verified both of the marker chromosomes to be Y chromosome fragments. Mar1 was ish.idic(Y)(q11.2)(SRY++,DXZ1+,DYZ3++,DYZ1-), while mar2 was ish.del(Y)(q11.2)(SRY+,DXZ1+,DYZ3+,DYZ1-). Single nucleotide polymorphism (SNP) microarray analysis showed that the Yq11.2-Yq12 has lost a 10.81 Mb fragment.</p><p><b>CONCLUSION</b>The marker chromosomes were verified to be aberrant Y chromosomes, with the breakage and recombination occurring in Yq11.2. Mar 1 was an isodicentric Y chromosome (idic(Y)pter to q11.2::q11.2 to pter), and mar2 was del(Y)(q11.2). The karyotype was mos 46,X,ish idic(Y)(q11.2)(DYZ3++,SRY++,DXZ1+,DYZ1-)[21]/46,X,ish del(Y)(q11.2)(DYZ3+,SRY+,DXZ1+,DYZ1-)[78]. Combined FISH, Y chromosome STS analysis, SNP microarray analysis and other technologies can facilitate determination of the nature of marker chromosomes.</p>


Subject(s)
Adult , Chromosomes, Human, Y , Genetics , Cytogenetics , Humans , In Situ Hybridization, Fluorescence , Male , Polymorphism, Single Nucleotide , Sex Chromosome Aberrations , Sex Chromosome Disorders , Genetics
12.
Article in Chinese | WPRIM | ID: wpr-247678

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the phenotype-genotype association of isodicentromere Y chromosome by analysis of two female patients carrying the chromosome with sexual development disorders.</p><p><b>METHODS</b>The karyotypes of the two patients were determined by application of conventional G banding of peripheral blood samples and fluorescence in situ hybridization (FISH). PCR was applied to detect the presence of SRY gene.</p><p><b>RESULTS</b>Conventional karyotype analysis showed case 1 to be a mosaic: mos.45,X[38]/46,X,+mar[151]/47,XY,+mar[5]/47,X,+mar × 2[2]/46,XY[4], FISH showed that 12 different cell lines were presented in the karyotype of case 1 and partial cell lines with SRY gene, the marker is an isodicentromere Y chromosome [idic(Y)(p)]. No mutation was found in the SRY gene. The karyotype of case 2 was mos.45,X[25]/46,X,+mar[35]. FISH showed the marker to be an idic(Y)(p) without the SRY gene.</p><p><b>CONCLUSION</b>The karyotype of patients carrying idic(Y)(p) seems unstable, and female patients have the characteristics of short stature and secondary sexual hypoplasia. Karyotype analysis combined with FISH analysis can accurately determine the breakpoint of idic(Y) and identify the types of complex mosaic, which may facilitate genetic counseling and prognosis.</p>


Subject(s)
Adolescent , Child , Chromosomes, Human, Y , Disorders of Sex Development , Genetics , Female , Humans , Karyotype , Sex Chromosome Aberrations , Sex-Determining Region Y Protein , Genetics
13.
National Journal of Andrology ; (12): 797-804, 2016.
Article in Chinese | WPRIM | ID: wpr-262292

ABSTRACT

<p><b>Objective</b>To investigate the clinical (including reproductive) manifestations and genetic characteristics of familial fragile X syndrome (FXS).</p><p><b>METHODS</b>We collected the clinical data about a case of familial FXS by inquiry, testicular ultrasonography, semen analysis, determination of sex hormone levels, and examinations of the peripheral blood karyotype and Y chromosome microdeletions. Using Southern blot hybridization, we measured the size of the CGG triple repeat sequence of the fragile X mental retardation-1 (FMR1) gene and determined its mutation type of the pedigree members with a genetic map of the FXS pedigree.</p><p><b>RESULTS</b>Among the 34 members of 4 generations in the pedigree, 3 males and 1 female (11.76%) carried full mutation and 9 females (26.47%) premutation of the FMR1 gene. Two of the males with full FMR1 mutation, including the proband showed a larger testis volume (>30 ml) and a higher sperm concentration (>250 ×10⁶/ml), with a mean sperm motility of 50.5%, a mean morphologically normal sperm rate of 17.5%, an average sperm nuclear DNA fragmentation index (DFI) of 18.5%, a low level of testosterone, normal karyotype in the peripheral blood, and integrity of the azoospermia factor (AZF) region in the Y chromosome. One of the second-generation females carrying FMR1 premutation was diagnosed with premature ovarian failure and another 3 with uterine myoma.</p><p><b>CONCLUSIONS</b>Some of the FXS males in the pedigree may present macroorchidism and polyzoospermia but with normal semen parameters. In the intergenerational transmission, premutation might extend to full mutation, with even higher risks of transmission and extension of mutation in males, especially in those with >80 CGG triple repeat sequences. Therefore, it is recommended that the couples wishing for childbearing receive genetic testing, clinical guidance, and genetic counseling before pregnancy and, if necessary, prenatal diagnosis and preimplantation genetic diagnosis.</p>


Subject(s)
Chromosome Deletion , Chromosomes, Human, Y , Genetics , DNA Fragmentation , Female , Fragile X Mental Retardation Protein , Genetics , Fragile X Syndrome , Genetics , Genetic Testing , Humans , Infertility, Male , Genetics , Karyotyping , Male , Mutation , Organ Size , Pedigree , Pregnancy , Preimplantation Diagnosis , Risk , Sex Chromosome Aberrations , Sex Chromosome Disorders of Sex Development , Genetics , Sperm Count , Testis , Diagnostic Imaging , Pathology
14.
Article in English | WPRIM | ID: wpr-213686

ABSTRACT

We report the prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus. Cytogenetic analysis of parental chromosomes revealed that the mother had a normal 46,XX karyotype, whereas the father exhibited a 46,XY,der(15)t(Y;15) karyotype. We performed cytogenetic analysis of the father's family as a result of the father and confirmed the same karyotype in his mother and brother. Fluorescence in situ hybridization and quantitative fluorescent-polymerase chain reaction analysis identified the breakpoint and demonstrated the absence of the SRY gene in female members. Thus, the proband inherited this translocation from the father and grandmother. This makes the prediction of the fetal phenotype possible through assessing the grandmother. Therefore, we suggest that conventional cytogenetic and molecular cytogenetic methods, in combination with family history, provide informative results for prenatal diagnosis and prenatal genetic counseling.


Subject(s)
Chromosomes, Human, Pair 15 , Cytogenetic Analysis , Cytogenetics , Fathers , Female , Fetus , Fluorescence , Genes, sry , Genetic Counseling , Grandparents , Humans , In Situ Hybridization , Karyotype , Mothers , Parents , Phenotype , Prenatal Diagnosis , Sex Chromosome Aberrations , Siblings
15.
Article in Chinese | WPRIM | ID: wpr-345411

ABSTRACT

<p><b>OBJECTIVE</b>To establish an accurate, fast and simple screening method for AZF microdeletions using capillary technology and use it for clinical testing.</p><p><b>METHODS</b>For each pair of primers, the 5' end of either forward or reverse primer was labeled with a FAM, JOE or TAMRA fluorescence dyes to establish multiplex quantitative fluorescence PCR systems for the establishment of a screening method of Y chromosome AZF microdeletions by capillary technology. The detection of Y chromosome AZF microdeletion was carried out on 725 cases of non-obstructive azoospermia, oligospermia or asthenospermia.</p><p><b>RESULTS</b>A screening method for Y chromosome AZF microdeletions using capillary technology was established. Thirty eight cases of AZF microdeletions were found among 725 cases of non-obstructive azoospermia, oligospermia or asthenospermia, which gave a deletion rate of 5.24%. Y chromosomal microdeletions were found in 8.62% of the azoospermia group, 6.75% of the oligozoospermic group, and 2.23% of the asthenospermia group.</p><p><b>CONCLUSION</b>An accurate, fast and simple screening method of Y chromosome AZF microdeletions by capillary technology has been established, which may have an important clinical value.</p>


Subject(s)
Adult , Azoospermia , Genetics , Capillary Action , Chromosome Deletion , Chromosomes, Human, Y , Humans , Infertility, Male , Male , Multiplex Polymerase Chain Reaction , Sex Chromosome Aberrations , Sex Chromosome Disorders of Sex Development , Diagnosis
16.
Article in Chinese | WPRIM | ID: wpr-345381

ABSTRACT

<p><b>OBJECTIVE</b>To analyze a fetus with increased nuchal translucency and nuchal fold, and to assess the recurrence risk for her family and provide a basis for prenatal diagnosis.</p><p><b>METHODS</b>G-banded karyotyping and single nucleotide polymorphism-based array (SNP-Array) analysis were used to analyze the fetus and her parents.</p><p><b>RESULTS</b>SNP-Array analysis has detected a 41.04 Mb duplication at Xp22.33p11.4 and a 30.51 Mb duplication at 13q31.3q34 in the fetus. G-banding karyotyping indicated that the fetus had a karyotype of 46,X,der(X)(13qter-13q31::Xp11.4-Xp22.3::Xp22.3-Xqter). Her parents had normal results for both G-banding karyotyping and SNP-Array analysis, suggesting that the fetus has carried a de novo derivative chromosome X.</p><p><b>CONCLUSION</b>SNP-Array combined with G-banding karyotyping is helpful to confirm the composition and connection type of de novo derivative chromosome, which can improve the accuracy of diagnosis and is valuable for the evaluation of recurrence risk.</p>


Subject(s)
Adult , Chromosome Banding , Chromosome Duplication , Chromosomes, Human, X , Genetics , Female , Fetus , Congenital Abnormalities , Metabolism , Humans , Karyotyping , Male , Oligonucleotide Array Sequence Analysis , Methods , Polymorphism, Single Nucleotide , Pregnancy , Prenatal Diagnosis , Methods , Sex Chromosome Aberrations
17.
Article in Chinese | WPRIM | ID: wpr-287989

ABSTRACT

<p><b>OBJECTIVE</b>To compare the results of fluorescence in situ hybridization (FISH) assay and conventional karyotyping analysis for the detection of chromosomal aneuploidies.</p><p><b>METHODS</b>In total 2607 amniotic fluid samples were subjected to an improved FISH technique. Meanwhile, karyotype analysis was also ordered for each sample.</p><p><b>RESULTS</b>Of the 2607 samples, 62 abnormalities were identified by FISH, which included 62 cases of trisomy 21, 5 cases of 45,X, 12 cases of trisomy 18, 3 cases of trisomy 13, and 1 case of 47, XYY. Conventional karyotyping analysis has identified 63 cases of trisomy 21, 5 cases of 45,X, 12 cases of trisomy 18, 3 cases of trisomy 13, 1 case of 47, XYY, and 57 cases of balanced translocations. The success rate of FISH detection was 98.4% for trisomy 21, and 100% for 45,X, trisomy 18 and trisomy 13.</p><p><b>CONCLUSION</b>For the detection of chromosomal aneuploidies, FISH assay is quick, simple, accurate and can reduce workload when aminocyte culture has failed. As an auxiliary method for amniocytic analysis, it can provide reference for the consultation of those with advanced age and high pregnancy risk.</p>


Subject(s)
Adult , Amniocentesis , Methods , Amniotic Fluid , Cell Biology , Metabolism , Chromosomes, Human, Pair 18 , Genetics , Chromosomes, Human, Pair 3 , Genetics , Chromosomes, Human, Y , Genetics , Down Syndrome , Genetics , Female , Fetal Diseases , Diagnosis , Genetics , Humans , In Situ Hybridization, Fluorescence , Methods , Karyotype , Karyotyping , Methods , Middle Aged , Pregnancy , Reproducibility of Results , Sensitivity and Specificity , Sex Chromosome Aberrations , Trisomy , Genetics , Trisomy 18 Syndrome , Turner Syndrome , Genetics , Young Adult
18.
Article in English | WPRIM | ID: wpr-195766

ABSTRACT

PURPOSE: Noninvasive prenatal test (NIPT) by massively parallel sequencing (MPS) of cell-free fetal DNA in maternal plasma marks a significant advancement in prenatal screening, minimizing the need for invasive testing of fetal chromosomal aneuploidies. Here, we report the initial clinical performance of NIPT in Korean pregnant women. MATERIALS AND METHODS: MPS-based NIPT was performed on 910 cases; 5 mL blood samples were collected and sequenced in the Shenzhen BGI Genomic Laboratory to identify aneuploidies. The risk of fetal aneuploidy was determined by L-score and t-score, and classified as high or low. The NIPT results were validated by karyotyping for the high-risk cases and neonatal follow-up for low-risk cases. RESULTS: NIPT was mainly requested for two clinical indications: abnormal biochemical serum-screening result (54.3%) and advanced maternal age (31.4%). Among 494 cases with abnormal biochemical serum-screening results, NIPT detected only 9 (1.8%) high-risk cases. Sixteen cases (1.8%) of 910 had a high risk for aneuploidy: 8 for trisomy 21, 2 for trisomy 18, 1 for trisomy 13, and 5 for sex chromosome abnormalities. Amniocentesis was performed for 7 of these cases (43.8%). In the karyotyping and neonatal data, no false positive or negative results were observed in our study. CONCLUSION: MPS-based NIPT detects fetal chromosomal aneuploidies with high accuracy. Introduction of NIPT as into clinical settings could prevent about 98% of unnecessary invasive diagnostic procedures.


Subject(s)
Amniocentesis , Aneuploidy , DNA , Down Syndrome , Female , Follow-Up Studies , High-Throughput Nucleotide Sequencing , Humans , Karyotyping , Korea , Maternal Age , Plasma , Pregnant Women , Prenatal Diagnosis , Sex Chromosome Aberrations , Trisomy
19.
Article in English | WPRIM | ID: wpr-195761

ABSTRACT

Noninvasive prenatal test (NIPT) is a novel screening method for the diagnosis of fetal chromosomal aneuploidies. NIPT is based on technology that detects cell-free fetal DNA in maternal plasma and analyzes it with massively parallel sequencing technology to determine whether the fetus is at risk of trisomy 21, trisomy 18, trisomy 13 or sex chromosome abnormalities (SCAs). NIPT has been reported to have sensitivity of 99% and a false positive rate of less than 1% for detecting trisomy 21 and trisomy 18. Although extension of the application of NIPT to other SCAs has been attempted, there are concerns in extending NIPT to SCAs because of maternal or fetal mosaicism, undetected maternal SCAs, and multiple pregnancies. Recently, we assessed a pregnancy with the rare Turner syndrome mosaicism 45, X/47, XXX, which was reported as 45, X with NIPT. We present the case here and briefly review the current literatures on NIPT in testing for fetal monosomy X. To the best of our knowledge, this is the first report of the 45, X/47, XXX mosaicism in Korea to be reported as 45, X by NIPT with whole genome sequencing. This case report will provide valuable information for counseling women who want to undergo NIPT.


Subject(s)
Aneuploidy , Counseling , Diagnosis , DNA , Down Syndrome , Female , Fetus , Genome , High-Throughput Nucleotide Sequencing , Humans , Korea , Mass Screening , Mosaicism , Plasma , Pregnancy , Pregnancy, Multiple , Prenatal Diagnosis , Sex Chromosome Aberrations , Trisomy , Turner Syndrome
20.
Article in Chinese | WPRIM | ID: wpr-346190

ABSTRACT

<p><b>OBJECTIVE</b>To study the relationship between loss of sex chromosomes and prognosis in children with acute myeloid leukemia (AML) M2 subtype.</p><p><b>METHODS</b>According to cytogenetic characteristics, 106 children with AML were divided into three groups: patients with normal karyotype (Group A, n=26), patients with abnormal karyotype who had no loss of sex chromosomes (Group B, n=52), and patients with abnormal karyotype who had loss of sex chromosomes (Group C, n=28). Prognosis was compared between the three groups.</p><p><b>RESULTS</b>The 5-year event-free survival (EFS) rates of Groups A, B, and C were (38.9±11.2)%, (59.3±7.3)%, and (66.5±10.5)%, respectively; the EFS of Group C was significantly higher than that of Group A (P=0.035). The 5-year overall survival (OS) rates of Groups A, B, and C were (54.3±13.5)%, (68.1±7.7)%, and (77.9±9.8)%, respectively (P>0.05). The 5-year EFS of 58 patients with t(8;21) was (63.3±7.3)%, significantly higher than that of patients with normal karyotype (P=0.015). All the 28 cases in Group C had t(8;21), and their 5-year EFS was not significantly different from that of patients with t(8;21) in Group B (P>0.05).</p><p><b>CONCLUSIONS</b>Loss of sex chromosomes is a favorable karyotype in children with AML M2 subtype and the patients in this group mostly have t(8;21). Why loss of sex chromosomes indicates a favorable prognosis is probably because it is accompanied by t(8;21) in the patients.</p>


Subject(s)
Adolescent , Child , Child, Preschool , Chromosomes, Human, Pair 21 , Chromosomes, Human, Pair 8 , Female , Humans , Karyotype , Leukemia, Myeloid, Acute , Genetics , Mortality , Male , Prognosis , Sex Chromosome Aberrations , Translocation, Genetic
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