OBJECTIVE: To explore the coincidence rate of G-banding karyotype analysis and fluorescence in situ hybridization (FISH) for the diagnosis of children with sex chromosome mosaicisms. METHODS: A retrospective analysis was carried out for 157 children with suspected sex chromosome abnormalities who had presented at Shenzhen Children's Hospital from April 2021 to May 2022. Interphase sex chromosome FISH and G-banding karyotyping results were collected. The coincidence rate of the two methods in children with sex chromosome mosaicisms was compared. RESULTS: The detection rates of G-banding karyotype analysis and FISH were 26.1% (41/157) and 22.9% (36/157) , respectively (P > 0.05). The results of G-banding karyotype analysis showed that 141 cases (89.8%) were in the sex chromosome homogeneity group, of which only 5 cases (3.5%) were inconsistent with the results of FISH. There were 16 cases (10.2%) in the sex chromosome mosaicism group, of which 11 cases (68.8%) were inconsistent with the results of FISH. There was a statistical difference between the two groups in the coincidence rate of the results of the two methods (P < 0.05). CONCLUSION No significant difference was found between G-banding karyotype analysis and FISH in the detection rate of chromosome abnormalities. The coincidence rate in the mosaicism group was lower than that in the homogeneity group, and the difference was statistically significant. The two methods should be combined for clinical diagnosis.
Humans ; Mosaicism ; In Situ Hybridization, Fluorescence/methods* ; Retrospective Studies ; Karyotyping ; Chromosome Aberrations ; Sex Chromosome Aberrations ; Karyotype ; Chromosome Banding ; Sex Chromosomes

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.
Aneuploidy ; Chromosome Aberrations ; Female ; Humans ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis ; Sex Chromosome Aberrations

OBJECTIVETo explore the chromosome karyotypes in children with mental retardation.

METHODSThe peripheral blood lymphocytes from 92 children with congenital mental retardation were cultured and analysed by the G-band technique.

RESULTSOf the 92 cases, 43 cases (47%) showed chromosome abnormalities. Autosomal abnormalities were found in 35 cases (38%) and sex chromosome abnormalities were found in 8 cases (9%). A novel abnormal karyotype 45, XX, psu dic (11;9) (p15;p24) was found in a child.

CONCLUSIONSChromosome abnormalities may be important cytogenetic factors for congenital mental retardation. Cytogenetic chromosome karyotypic analysis appears to be an important method for genetic screening of congenital mental retardation.

Adolescent ; Child ; Child, Preschool ; Chromosome Aberrations ; Female ; Genetic Testing ; Humans ; Infant ; Intellectual Disability ; genetics ; Karyotyping ; Male ; Sex Chromosome Aberrations

OBJECTIVETo determine the value of fluorescence in situ hybridization (FISH) to the diagnosis of chromosome abnormality in genetic diseases and prenatal diagnosis.

METHODSFISH was performed using appropriate probes, including alpha-satellite DNA probe, chromosome sequence specific probe and whole chromosome painting probe, to examine the blood samples from 36 patients who were suspected of having chromosome abnormality by conventional cytogenetics, and to examine the amniocytes from 45 pregnant women who were in need of prenatal diagnosis.

RESULTSAmong 36 patients, the following karyotypes 45, X; 45, X/46, XX; 45, X/46, Xr(X); 46, X, i(Xq); 47, XXY; 46, XX, t(4;7); 47, XYY; 47, XXX; 47, XXY, inv(7); 46, XY, inv(7); 47, XX, +21 were detected by FISH. Of the fetuses of the 45 pregnant women, two fetuses with chromosomal abnormalities were diagnosed by FISH; the karyotypes were 47, XX, +18 and 46, XY, der(15) t(Y;15) respectively.

CONCLUSIONFISH can precisely and rapidly detect the chromosome abnormalities. It is a complement to the conventional cytogenetics and can be widely used in the diagnosis of genetic diseases and prenatal diagnosis.

Adult ; Amniocentesis ; Chromosome Aberrations ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; Male ; Prenatal Diagnosis ; Sex Chromosome Aberrations ; Turner Syndrome ; diagnosis

OBJECTIVE: To assess the value of chromosomal karyotyping analysis and single nucleotide polymorphism-based microarray (SNP-array) for the detection of chromosomal mosaicisms in amniotic fluid samples. METHODS: Seventy four pregnant women with fetal mosaicisms detected by both methods were retrospectively analyzed. RESULTS: Among the 74 mosaicisms, 12 were pseudo and 62 were true mosaicisms, which included 1 Robertsonian translocation, 3 deletions, 4 supernumerary markers, 19 autosomal aneuploidy mosaicisms, 30 sex chromosome aneuploidy mosaicisms and 5 isometric chromosome mosaicisms. CONCLUSION Chromosome karyotyping analysis and SNP-array have their own advantages and limitations for the diagnosis of mosaicisms. When the two methods have yielded inconsistent results, fluorescence in situ hybridization may be used for further verification.
Aneuploidy ; Chromosome Aberrations ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Mosaicism ; Pregnancy ; Prenatal Diagnosis/methods* ; Retrospective Studies ; Sex Chromosome Aberrations

To provide current information on sex chromosome abnormalities to obstetricians andgynecologists who encounter such diagnoses and who counsel prospective parents faced withthe prenatal diagnosis of a sex chromosome abnormalities. I reviewed 116 patients' clinical data and results of karyotype which proven sexchromosome abnormalities in cytogenetic unit of Department of Ob. and Gyn., PNUH during theperiod of 1993. Aug.~1996. Dec.The results of the analysis of karyotyping in sex chromosome abnormalities in these 116cases are like following.1. Peak age group when diagnosed abnormal sex chromosome is 26~35 years old inmen(46 among 56 cases) and 16~30 years old in women(40 among 60 cases).2. The most common primary reason of abnormal sex chromosome is sterility inmen(48 among 56 cases) and amenorrhea in women(36 among 60 cases).3. The most common referred primary reason in Klinefelters syndrome issterility(44 among 49 cases) and in Turners syndrome is primary amenorrhea(27 among55 cases).4. The most common type of abnormal sex chromosome is Klinefelters syndrome inmen(49 among 56 cases) and Turners syndrome in women(55 among 60 cases).5. In my 116 cases of abnormal sex chromosome, numerical abnormalities are 67 cases,mosaicisms 28 cases, structural abnormalities 13 cases, XY female 6 cases, and XX male2 cases. So the most common abnormal sex chromosome is numerical abnormality.6. In my 55 cases of Turners syndrome, XO karyotypes are 26 cases, X, abnormal X are11 cases, and mosaic pattern are 18 cases. So the most common karyotype in Turnerssyndrome is standard pattern(45,X).In conclusion, abnormal sex chromosome were very important causes of infertility,amenorrhea, abnormal pubertal development, ambiguous genitalia, and stature. Therefore,these patients must taken cytogenetic study, and obstetrics and gynecologists provideaccurate and comprehensive genetic counseling.
Amenorrhea ; Chromosome Aberrations* ; Cytogenetics ; Diagnosis ; Disorders of Sex Development ; Female ; Genetic Counseling ; Humans ; Infertility ; Karyotype ; Karyotyping ; Klinefelter Syndrome ; Obstetrics ; Parents ; Prenatal Diagnosis ; Sex Chromosome Aberrations ; Sex Chromosomes ; Turner Syndrome

To study the parental origin and cell stage of nondisjunction in sex chromosome aneuploidies. Retrospectiving and analyzing the results of 385 cases of SCA confirmed by QF-PCR and karyotype analysis in the prenatal diagnosis center of Guangzhou Women and Children Medical Center from January 2015 to December 2020. The types of samples and prenatal diagnosis indications were analyzed. The parental origin and cell stage of nondisjunction in sex chromosome aneuploidies analyzed by comparing the short tandem repeat (STR) peak patterns of samples from fetuses and maternal peripheral blood. The results show that (1) There were 324 cases of nonmosaic SCA, 113 cases (113/324, 34.9%) were 45, XO, 118 cases (118/324, 36.4%) were 47, XXY, 48 cases (48/324, 14.8%) were 47, XXX and 45 cases (45/324, 13.9%) were 47, XYY. 68 (45/324, 60.2%) cases of 45, X were detected in villus samples. The other SCA cases were mainly detected in amniotic fluid samples. There were 61 mosaic SCA samples, 58(58/61, 95.1%) of mosaic SCA samples were mosaic 45, X. (2) The top two indications of 45, X cases are increased nuchal translucency(53/113, 46.9%) and fetal cystic hygroma (41/113, 36.3%), while the most common indication of other types of SCA was high risk of NIPT(170/272, 62.5%). (3) Among 45, X cases, there were 88 cases (88/113, 77.9%) inherit their single X chromosome from their mother and 25 cases (25/119, 22.1%) from their father. In 47, XXY samples, 47 cases (47/118, 39.8%) of chromosome nondisjunction occurred in meiosis stage Ⅰ of oocytes, 51 cases (51/118, 43.2%) occurred in meiosis stage Ⅰ of spermatocytes, and 20 cases (20/118, 16.9%) occurred in meiosis stage Ⅱ of oocytes. Among 47, XXX samples, 29 cases (29/48, 60.4%) of X chromosome nondisjunction occurred in meiosis stage Ⅰof oocytes, 15 cases (15/48, 31.3%) occurred in meiosis stage Ⅱ of oocytes, and 4 cases (4/48, 8.3%) occurred in meiosis stage Ⅱ of spermatocytes. In summary , the cases of 45, X were mainly diagnosed by villous samples for abnormal ultrasound findings. The other cases of SCA were mainly diagnosed by amniocentesis samples for abnormal NIPT results. Different types of SCA, the origin and occurrence period of sex chromosome nondisjunction were different.
Aneuploidy ; Female ; Humans ; Karyotyping ; Male ; Pregnancy ; Prenatal Diagnosis/methods* ; Sex Chromosome Aberrations ; Sex Chromosomes/genetics*

OBJECTIVETo establish an accurate, fast and simple screening method for AZF microdeletions using capillary technology and use it for clinical testing.

METHODSFor 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.

RESULTSA 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.

CONCLUSIONAn accurate, fast and simple screening method of Y chromosome AZF microdeletions by capillary technology has been established, which may have an important clinical value.

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

OBJECTIVETo investigate the characteristics of father-to-son vertical transmission of Y chromosome microdeletions

METHODSWe detected the Y by detection of Y chromosome microdeletions in infertile men and analysis of some of their families. chromosome azoospermia factor (AZF) microdeletions in the peripheral blood of 1 052 infertile males, investigated the paternal relatives of 12 cases of AZFc, 1 case of AZFb and 1 case of AZFb + c microdeletions, and drew the family tree diagrams of the infertile paternal relatives according to the findings.

RESULTSAmong the 1 052 infertile patients, 89 (9.73%) were found with Y chromosomal microdeletions, including 56 with AZFc, 6 with AZFa, 5 with AZFb, 14 with AZFb + c, and 8 with AZFa + b + c deletion. The investigation of the 14 patients'families revealed 1 case of AZFb and 1 case of AZFb + c deletion de novo. Among the 12 cases of AZFc deletion, vertical heredity was found in 5 patients with severe oligozoospermia, but not in the other 7 with azoospermia.

CONCLUSIONAZFe deletion may be vertically inherited from the father in severe oligozoospermia patients, and it is different from the paternal phenotype, while in azoospermia patients, AZF deletion, whatever type it may be, is less likely to be associated with vertical paternal heredity.

Adult ; Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Humans ; Infertility, Male ; Male ; Mass Screening ; Pedigree ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development ; genetics ; Young Adult

OBJECTIVETo explore the relationship between chromosomal abnormalities and Y chromosome microdeletions in idiopathic male infertile patients.

METHODSKaryotypic analysis and PCR were carried out in 133 male idiopathic infertile patients for chromosome karyotype and Y chromosome microdeletion analysis.

RESULTSOf the 133 patients, 25 (18.80%) were found to have chromosome abnormalities, and 12 (9.02%) were found to have Y chromosome microdeletions including 2 with varicocele and 2 with cryptorchism. Four patients had both chromosomal abnormalities and Y chromosome microdeletions.

CONCLUSIONThe chromosomal abnormalities and Y chromosome microdeletions may play an important role in idiopathic male infertility, suggesting the importance of examinations of chromosomal abnormalities and Y chromosome microdeletions in such patients.

Adult ; Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Humans ; Infertility, Male ; genetics ; Karyotyping ; Male ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development ; genetics ; Young Adult