Double aneuploidy: partial trisomy 21 and XO/XXX in a family with 12/21 translocation.

A female patient with mild mental retardation with spatial perceptual difficulties, microcephaly, depressed nasal root, receding chin, webbed neck, low hairline, shield chest, cubitus valgus, scoliosis and dermatoglyphic findings not characteristic of Down's syndrome is reported. In addition to X/XXX, she had a partial trisomy 21 of the short arm-centromere-proximal long arm segment due to maternal t(12;21) translocation. Two phenotypically normal siblings carried the balanced translocation.     

CAG polymorphism of the androgen receptor gene in azoospermic and oligozoospermic men from Ukraine

An analysis of the number of CAG repeats in exon 1 of the gene was conducted in a group of 228 infertile males with azoospermia (n = 68) and oligozoospermia (n = 160), and in a control group (124 proven fathers) by means of polymerase chain reaction with subsequent fragment analysis on an ALF-Express automated fluorescent analyzer. Allele frequency with the number of CAG repeats ≤ 18 was found to be significantly higher (P < 0.01) in the group of patients with azoospermia (17.7%) as compared to the control group (2.4%), and in the group of patients with oligozoospermia (12.5%) as compared to the control group (2.4%). Allele frequency with the number of CAG repeats ≥ 28 was shown to be significantly higher (P < 0.01) in patients with oligozoospermia (12.5%) as compared to the control group (2.4%). Our data suggest an association between the number of CAG repeats and impaired spermatogenesis in azoospermic and oligozoospermic males.     

Microdeletions in the Y chromosome as a predictive marker of infertility in males

Results of a molecular-genetics study of microdeletions in the Y chromosome among males with disturbances in spermatogenesis and among patients with cryptorchism are presented. A study of subregions AZFa, AZFb and AZFc with the use of DNA analysis in the STS loci sY84, sY86, sY127, sY134, sY254, sY255, and the gene SRY is performed. Microdeletions in the Y chromosome were found in 13.3% of infertile males studied who exhibited failed spermogram indicators, attesting to the significant information value of the study. The frequency of genetic (cyto- and molecular-genetic) damage among young boys with isolated cryptorchism amounted to 4%, which points to a need for further study of the genetic basis of cryptorchism. Management and optimization of the molecular-genetics study of microdeletions in the Y chromosome are of great importance for medical practice.     

Y-chromosome microdeletions as a prognostic marker of male infertility

The results of molecular-genetic study of Y-chromosome microdeletions in men with spermatogenesis failure and in patients with cryptorchism are presented. The molecular-genetic studies of regions AZFa, AZFb, AZFc in STS loci - sY84, sY86, sY127, sY134, sY254, sY255 and SRY gene have been performed. Y-chromosome microdeletions were detected in 13,3% infertile men with spermogram failure. The frequency of genetic (cyto- and molecular) abnormalities among boys with isolated cryptorchism was 4%. The results show the necessity of additional study ofgenetic factors ofcryptorchism development.     

Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure

The chromosomal anomalies, microdeletions of AZF region of Y-chromosome and CFTR gene mutations have been studied among 80 infertile men with idiopathic spermatogenetic failure: 36 (45%) patients with aspermia, 19 (24%) patients with azoospermia and 25 (31%) patients with severe oligoasthenoteratozoospermia. In total 30% males with spermatogenetic failure genetic factor of infertility was observed. Karyotype anomalies were observed in 17.5% of infertile men, within 16.2% numerical and structural gonosomal anomalies and in 1.3%—Robertsonian translocation were revealed. In 11.25% males with spermatogenetic failure, Y-chromosome AZF region microdeletions were detected. The frequency of CFTR major mutation F508del among infertile men was 6.25%. 5T allele of polymorphic locus IVS8polyT was detected in 7.5% of examined men. The results obtained indicate the high complexity of cytogenetic and moleculargenetic studies of male infertility.