The cytogenetic study of 3 cases of squamous cell carcinoma of the lung was performed to identify chromosomal abnormalities. All tumor cells were hypodiploid state on the average. Specicfic chromosomal anomalies were del[4][q33] and del[6][q25] in case 1, i[21q] in case 2, and del[3][q12] in case 3. The tendencies of monosomy were appered at chromosome 1, 9, 17, 18, 19, 22, and X chromosome in case 1, chromosome 22 and Y chromosome in case 2, and chromosome 1, 9, 16, 19, 20, 21, 22 and Y chromosome in case 3. The losses of sex chromosomes and chromosome 22 were common in these cases.
Carcinoma, Squamous Cell* ; Chromosome Aberrations ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 22 ; Cytogenetic Analysis* ; Cytogenetics* ; Lung* ; Monosomy ; Sex Chromosomes ; X Chromosome ; Y Chromosome

OBJECTIVETo analyze the numerical aberration of chromosome X, Y and 18 in the spermatozoa of asthenospermia patients by triple-color fluorescence in situ hybridization.

METHODSThe experiment included 10 asthenospermia patients and 5 healthy men with normal semen quality as controls. Fluorescence in situ hybridization (FISH) and probes for chromosomes including X, Y and 18 were used to determine the frequency of the aneuploid of the chromosomes in spermatozoa.

RESULTSOf the 45,547 spermatozoa counted from the semen samples, the hybridization rate was 99.18%. The frequencies of the chromosome disomies including XX18, XY18, YY18, X1818 and Y1818 were (0.124 +/- -0.086)%, (0.360 +/- 0.380)%, (0.109 +/- 0.195)%, (0.342 +/- 0.746)% and (0.299 +/- 0.564)% in the case group and (0.014 +/- 0.019)%, (0.090 +/- 0.080)%, (0.030 +/- 0.031)%, (0.068 +/- 0.103)% and (0.075 +/- 0.083)% in the control. The sperm aneuploid rate was 9.25% in the former and 2.70% in the latter, with significant difference in between (P< 0.01).

CONCLUSIONAsthenospermia patients have a higher aneuploid rate of sperm chromosome than normal fertile men. However, larger samples are yet to be studied to obtain more scientific evidence.

Aneuploidy ; Asthenozoospermia ; genetics ; Chromosome Painting ; methods ; Chromosomes, Human, Pair 18 ; Chromosomes, Human, X ; Chromosomes, Human, Y ; Humans ; Male ; Sex Chromosome Aberrations ; Spermatozoa ; metabolism

In order to evaluate the effects of sex chromosomal mosaicism on the accuracy of single-cell gender diagnosis, sex chromosomes of 21 normal fertilized embryos were detected by dual color fluorescent in-situ hybridization (FISH). The results showed that 4 embryos had sex chromosomal mosaicism (19%) and the remaining 17 showed uniformly XX or XY signals in all blastomeres. In conclusion, identification of sex by dual color FISH analysis of a single cell was accurate and efficient, and sex chromosomal mosaicism would not affect preimplantation gender diagnosis.
Blastocyst ; Chromosomes, Human, X ; genetics ; Chromosomes, Human, Y ; genetics ; Embryonic Development ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Mosaicism ; genetics ; Pregnancy ; Preimplantation Diagnosis ; methods ; Sex Chromosome Aberrations ; embryology ; Sex Chromosome Disorders ; diagnosis ; Sex Determination Processes

BACKGROUND: Loss of sex chromosomes in bone marrow is observed both in elderly persons as an aging phenomenon and in patients with hematologic malignancies. The purpose of this study was to evaluate the incidence and clinical significance of sex chromosome losses in patients with hematologic diseases, comparing the characteristics between patients with sole and secondary sex chromosome losses in conjunction with other chromosomal abnormalities. METHODS: Study group included 868 patients with hematologic diseases between June 1998 and May 2006. The cells of bone marrow aspirates were processed using unstimulated culture methods such as direct, 24-hr and/or 48-hr culture. Sex chromosome losses were included in the karyotype, when X or Y chromosome loss is observed in more than 2 metaphase cells. RESULTS: The sex chromosome losses in bone marrow were found in 5.1% of the patients and 1.8% showed sex chromosome losses as a sole chromosomal abnormality. According to the disease categories, the incidences of sex chromosome losses were as follows: acute myelogenous leukemia (AML), 9.5%; acute lymphoblastic leukemia, 0%; myelodysplastic syndrome, 6.0%; chronic myelogenous leukemia 3.6%; myeloproliferative disorders, 1.3%; multiple myeloma (MM), 13.0%; chronic lymphocytic leukemia, 0%; malignant lymphoma, 3.8%; and benign hematologic diseases 2.2%. The patients with sex chromosome losses as a sole chromosomal abnormality were all male and median age was higher than that of patients with sex chromosome losses as a secondary abnormality (64 vs. 58 yr, P=0.02). The proportion of metaphase cells with sex chromosome losses was significantly lower in patients with sex chromosome losses as a sole chromosomal abnormality (40% vs. 100%, P<0.0001). The changes of sex chromosome loss were correlated with the disease status of AML and MM. CONCLUSIONS: These results suggest that secondary sex chromosome losses in conjunction with other chromosomal abnormalities seem to be one of the clonal abnormalities, whereas sex chromosome losses as a sole change seem to be an aging phenomenon, but further studies are needed.
Adult ; Aged ; Bone Marrow Cells/*cytology ; *Chromosomes, Human, X ; *Chromosomes, Human, Y ; Female ; Hematologic Diseases/*diagnosis/*genetics ; Humans ; Male ; Middle Aged ; *Sex Chromosome Aberrations

OBJECTIVETo analyze main clinical manifestations and cytogenetic characteristics of patients with a 45,X/46,XY karyotype.

METHODSG-banding karyotype analysis was carried out. PCR was performed to detect azoospermia factor (AZF) microdeletion in adult male patients and sex-determining region on Y chromosome (SRY) gene in all patients. Clinical phenotype and genetic characteristics were summarized.

RESULTSAmong the 9 individuals with 45,X/46,XY, there have been 7 males and 2 females. Six out of the 7 males have manifested primary infertility, which included 5 with azoospermia, 1 with oligospermia, and 1 with hypospadia. Three of the 6 infertile patients were found to have AZF microdeletions. Two females showed typical Turner syndrome. All of the 9 cases were SRY-positive.

CONCLUSIONThe 45,X/46,XY karyotype may result in a range of phenotypes. No correlation has been found between clinical manifestations and proportion of mosaicism cells for their peripheral blood karyotypes. As phenotypically normal male patients may produce sperm, infertile patients should undergo further examination at the molecular level.

Adolescent ; Adult ; Chromosomes, Human, X ; genetics ; Chromosomes, Human, Y ; genetics ; Cytogenetic Analysis ; Female ; Humans ; Infertility, Female ; genetics ; Infertility, Male ; genetics ; Karyotyping ; Male ; Mosaicism ; Sex Chromosome Aberrations ; Young Adult

OBJECTIVETo investigate the constitution of abnormal spermatozoa from patients with sex chromosome anomalies.

METHODSTriple color fluorescence in situ hybridization (FISH) was used to determine the sex chromosome constitution of spermatozoa from three patients with sex chromosome anomalies (case 1:46,XY/47,XXY, case 2:45,XO/46,X,Yqh-, case 3:47,XXY). The preimplantation genetic diagnosis (PGD) was performed to case 2.

RESULTSAn increased ratio (2.05 vs 1) of X-bearing to Y-bearing spermatozoa was only observed in case 2, who also had an increased incidence of total abnormal spermatozoa (29.71%). An increased incidence of total abnormal spermatozoa (4.91%) was also observed in case 3. Among the constitution of abnormal spermatozoa, case 2 had the increased proportions of XY18 disomy, O18 monosomy and XO monosomy, while case 3 had an increase proportion of XY18 disomy (1.87%). PGD was performed to case 2 and one embryo with XX1818 was selected for implanting.

CONCLUSIONUsing FISH to detect the sperm sex chromosomes in patients with sex chromosome anomalies can provide the useful information to evaluate the risk of sex chromosome anomalies in preimplantation embryos.

Adult ; Chromosomes, Human, X ; genetics ; Chromosomes, Human, Y ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Preimplantation Diagnosis ; methods ; Sex Chromosome Aberrations ; Spermatozoa ; metabolism

Major aneuploidies diagnosed prenatally involve the autosomes 13, 18, and 21, and sex chromosomes. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. The purpose of this study was to evaluate the role of multicolor fluorescence in situ hybridization in simultaneous detection of probe sets for chromosome 18, X, and Y in uncultured amniotic fluid cells as a safer alternative method for aneuploidy detection prenatally. Fifty amniotic fluid samples were analyzed by FISH and standard cytogenetics. Mean time to obtain results was three days for fluorescence in situ hybridization and 20 days for karyotype. Fluorescence in situ hybridization was informative in 43 samples (86%), and within this group, two aneuploidies were correctly identified. This evaluation demonstrates that FISH with X, Y, and 18 alpha satellite DNA probes could accurately and rapidly detect aneuploidies involving these chromosomes and could be used in any prenatal clinical laboratory.
Amniocentesis/methods* ; Amniotic Fluid/cytology ; Aneuploidy ; Centromere/genetics ; Chromosomes, Human, Pair 18* ; Color ; DNA Probes ; DNA, Satellite/analysis ; Female ; Human ; In Situ Hybridization, Fluorescence/methods* ; Karyotyping ; Pregnancy ; Sex Chromosome Abnormalities/genetics ; Sex Chromosome Abnormalities/diagnosis* ; X Chromosome* ; Y Chromosome*

OBJECTIVETo characterize molecular and cytogenetic abnormalities in six 46, XX males, and to investigate the clinical manifestations and underlying mechanisms in such patients.

METHODSClinical data of six XX male patients were collected. Karyotyping, multiple polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) were utilized to detect and locate the sex determining region (SRY) gene.

RESULTSPCR and FISH showed that all patients were SRY-positive XX males. All patients have their SRY gene located at the tip of derivative X chromosomes, which have resulted from translocation between short arms of X and Y chromosomes. High resolution karyotyping at 550-750 band level has revealed that the translocation breakpoints were at Xp22.33 and Yp11.2 in three patients. In the remaining patients, the breakpoints were either at Xp22.32 and Yp11.31 or Xp22.31 and Yp11.2. The breakpoints at Xp22.32, Xp22.31 and Yp11.31 were rarely reported. Genotype-phenotype correlation analysis indicated that the clinical manifestations were age-specific. Four adult patients have come to clinical attention due to infertility, with typical features including azoospermia and testis dysgenesis, whereas poorly developed secondary sexual characteristics and short stature were main complaints of adolescence patients, and short stature was the sole symptom in a child patient.

CONCLUSIONCombined karyotyping, PCR and FISH are important for the analysis of XX males. Particularly, high resolution karyotyping is valuable for the refinement of chromosome breakpoints and detailed analysis of genotype-phenotype correlation.

46, XX Disorders of Sex Development ; genetics ; Adolescent ; Adult ; Child, Preschool ; Chromosomes, Human, X ; Chromosomes, Human, Y ; Genetic Association Studies ; methods ; Humans ; Karyotyping ; methods ; Male ; Sex Chromosome Aberrations ; Translocation, Genetic ; Young Adult

The clinical characteristics of patients with disorders of sex development (DSD), and the diagnostic values of classic cytogenetic and molecular genetic assays for DSD were investigated. In the enrolled 56 cases, there were 9 cases of 46,XY DSD, 6 cases of Turner syndrome (TS), one case of Super female syndrome, 25 cases of Klinefelter syndrome, 14 cases of 46,XX DSD, and one case of autosomal balanced rearrangements with hypospadias. The diagnosis of sex was made through physical examination, cytogenetic assay, ultrasonography, gonadal biopsy and hormonal analysis. PCR was used to detect SRY, ZFX, ZFY, DYZ3 and DYZ1 loci on Y and X chromosomes respectively. The DSD patients with the same category had similar clinical characteristics. The karyotypes in peripheral blood lymphocytes of all patients were identified. PCR-based analysis showed presence or absence of the X/Y-linked loci in several cases. Of the 9 cases of 46,XY DSD, 6 were positive for SRY, 9 for ZFX/ZFY, 9 for DYZ3 and 8 for DYZ1 loci. Of the 6 cases of TS, only 1 case with the karyotype of 45,X,/46,XX/46,XY was positive for all 5 loci. Of the 25 cases of Klinefelter syndrome, all were positive for all 5 loci. In one case of rare Klinefelter syndrome variants azoospermia factor (AZF) gene detection revealed the loss of the AZFa+AZFb region. In 14 cases of 46,XX DSD, 7 cases were positive for SRY, 14 for ZFX, 7 for ZFY, 7 for ZYZ3, and 5 for DYZ1. PCR can complement and also confirm cytogenetic studies in the diagnosis of sex in cases of DSD.
Adolescent ; Adult ; Child ; Child, Preschool ; Chromosome Aberrations ; Chromosome Banding ; Chromosomes, Human, X ; genetics ; Chromosomes, Human, Y ; genetics ; Disorders of Sex Development ; diagnosis ; genetics ; Female ; Gene Deletion ; Genetic Loci ; genetics ; Humans ; Karyotyping ; Kruppel-Like Transcription Factors ; genetics ; Male ; Polymerase Chain Reaction ; Sex Chromosome Aberrations ; Sex-Determining Region Y Protein ; genetics ; Young Adult

OBJECTIVETo investigate the pathogenesis of male sterility in 48,XXYY syndrome patient.

METHODSThe peripheral lymphocyte was detected by dual-color fluorescence in situ hybridization. The bioptic testicular tissues were pathologically sectioned and ultra-thin sections were examined by electron-microscopy.

RESULTSThe pathological findings revealed extremely severe dysgenesis of the badly damaged testicular tissue. Only a few convoluted seminiferous tubules were found, in which no spermatogenic cell or sperm of any range could be viewed. The ultrastructural observations showed the thickened interstitial vascular walls of the testicular tissue and severe hyperplasia of the collagen fibers in the basilemma and lumens of the blood vessels.

CONCLUSIONThe structure of the testicle in the 48,XXYY syndrome patient has severe fibrous hyperplasia, leading to the non-specific thickening of the barrier and serious damage to the blood-testis barrier, which in turn produce significant disturbance and pathological changes in the process of the spermatogenic cell formation. The whole interrelated loops account mainly for the male sterility.

Adult ; Chromosomes, Human, X ; genetics ; Chromosomes, Human, Y ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Infertility, Male ; genetics ; pathology ; Lymphocytes ; metabolism ; Male ; Microscopy, Electron ; Sex Chromosome Aberrations ; Testis ; metabolism ; pathology ; ultrastructure