The long arm of the human Y chromosome is required for male fertility. Deletions in three different regions can cause severe spermatogenic defects ranging from non-obstructive azoospermia to oligozoospermia. Use of intracytoplasmic sperm injection (ICSI) may allow Y chromosome defects to be passed from father to son. Thus, numerous reports have stressed the need to offer genetic testing to infe...

A radiation hybrid (RH)-derived physical map of 25 markers on the feline X chromosome (including 19 Type I coding loci and 6 Type II microsatellite markers) was compared to homologous marker order on the human and mouse X chromosome maps. Complete conservation of synteny and marker order was observed between feline and human X chromosomes, whereas the same markers identified a minimum of seven ...

(Y;autosome) translocations have been reported in association with male infertility. Different mechanisms have been suggested to explain the male infertility, such as deletion of the azoospermic factor (AZF) on the long arm of the Y chromosome, or meiosis impairment. We describe a new case with a de novo unbalanced translocation t(Y;22) and discuss the genotype-phenotype correlation. A 36 year ...

DELETION RESULT AT STS a sY142 sY1197 sY1191, sY1192, and/or 50f2/C sY1291 sY1206 sY1201 b2/b3 b ϩ ϩ Ϫ ϩ ϩ ϩ gr/gr ϩ ϩ ϩ Ϫ ϩ ϩ b1/b3 ϩ Ϫ Ϫ Ϫ ϩ ϩ b2/b4 c ϩ ϩ Ϫ Ϫ Ϫ ϩ None ϩ ϩ ϩ ϩ ϩ ϩ NOTE.—See Kuroda-Kawaguchi et al. a ϩ p present; Ϫ p absent. b Termed the " g1/g3 " deletion by Fernandes et al. (2004). c " Classical " AZFc. To the Editor: We read with interest the report of a novel deletion of p...

Structural abnormalities include various types of translocations, inversions, deletions, duplications and isochromosomes. Structural abnormalities of the Y chromosome are estimated to affect less than 1% of the newborn male population and are particularly hazardous for male reproductive function. The objective of this study was to characterize a group of patients with structural abnormalities o...

A 20-year-old male patient with chromosomal constitution 45,X, testes and normal external genitalia was examined. Neither mosaicism nor a structurally aberrant Y chromosome was observed when routine cytogenetic analysis was performed on both lymphocytes and skin fibroblasts. Y chromosome-specific single-copy and repeated DNA sequences were detected in the patient's genome by means of 11 differe...

AIM To investigate the associations of autosomal and X-chromosome homologs of the RNA-binding-motif (RNA-binding-motif on the Y chromosome, RBMY) gene with non-obstructive azoospermia (NOA), as genetic factors for NOA may map to chromosomes other than the Y chromosome. METHODS Genomic DNA was extracted using a salting-out procedure after treatment of peripheral blood leukocytes with proteinas...

objective: microdeletions of the y chromosome long arm are the most common molecular genetic causes of severe infertility in men. they affect three regions including azoospermia factors (azfa, azfb and azfc), which contain various genes involved in spermatogenesis. the aim of the present study was to reveal the patterns of y chromosome microdeletions in iranian infertile men referred to royan i...

The mammalian sex-chromosomes (X and Y) have evolved from autosomes and are involved in sex determination and reproductive traits. The Y-chromosome is the smallest chromosome that consists of 2-3% of the haploid genome and may contain between 70 and 200 genes. The Y-chromosome plays major role in male fertility and is suitable to study the evolutionary relics, speciation, and male infertility a...

BACKGROUND Genetic factors cause about 15% of male infertility. Azoospermia factors (AZFa, AZFb, and AZFc) present on Yq are most important for spermatogenesis. We have made an attempt to evaluate the frequencies of microdeletions of AZFa, AZFb, AZFc in idiopathic cases of azoospermia and oligozoospermia from central Indian population. MATERIALS AND METHODS We have analyzed a total of 156 sub...