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Journal ArticleDOI

Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm.

TLDR
It is suggested that on the distal portion of the nonfluorescent segment of the long arm of the Y, factors are located controlling spermatogenesis.
Abstract
A deletion of the Y chromosome at the distal portion of band q11 was found in 6 men with normal male habitus but with azoospermia. Five of them were found during a survey of 1170 subfertile males while the sixth was karyotyped because of slight bone abnormalities. These findings, together with a review of the literature, suggest that on the distal portion of the nonfluorescent segment of the long arm of the Y, factors are located controlling spermatogenesis.

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Citations
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Journal ArticleDOI

Y chromosome microdeletions and germinal mosaicism in infertile males.

TL;DR: Blood, spermatozoa or testicular cells from 47 men, including six Y-deleted patients, were screened for mosaicism using double target fluorescence in-situ hybridization (FISH) with Y centromeric and deleted in azoospermia (DAZ) gene-specific probes, demonstrating the reliability of the method.
Journal ArticleDOI

Association of Spermatogenic Failure with the b2/b3 Partial AZFc Deletion

TL;DR: Combined with previous data this shows an association of the b2/b3 deletion (p = 0.0318) with spermatogenic failure in some populations, and recommends screening for this deletion in men with unexplained sperMatogenic failure.
Journal ArticleDOI

Short arm dicentric Y chromosome with associated statural defects in a sterile man.

TL;DR: It is suggested that the function of the gene controlling spermatogenesis in Yq11 in man might be to prevent proliferation or migration of germ cells to the gonad of the early embryo.
Journal ArticleDOI

Genetics of Azoospermia

TL;DR: In this paper, the authors classified these genes according to the associated-testicular histology underlying the NOA phenotype and found that approximately 37% of candidate genes are shared in human male and female gonadal failure, implying that genetic counselling should be extended also to female family members of NOA patients.
Journal ArticleDOI

Germ-Cell Nondisjunction in Testes Biopsies of Men With Idiopathic Infertility

TL;DR: Evidence is provided of an increased incidence of sex-chromosome aneuploidy observed in germ cells of men with severely impaired spermatogenesis who might be candidates for ICSI with sperm obtained directly from the testis, which suggests that chromosome instability is a result of altered genetic control during mitotic cell division and proliferation during sperMatogenesis.
References
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Journal ArticleDOI

A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities.

TL;DR: Data from a chromosome examination of 14,069 consecutive newborn infants is presented, finding 294 babies with a major chromosome abnormality or distinctive marker chromosomes.
Journal ArticleDOI

Possible role for H--Y antigen in the primary determination of sex.

TL;DR: The part that the X chromosome plays in male sexual differentiation has been clarified at the level of an individual gene situated on this chromosome.
Journal ArticleDOI

A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities

TL;DR: The results of the present study when combined with five other comparable studies, thus comprising a total of 46,150 newborn infants, indicates that the frequency of major chromosome abnormalities is between 1:150 and 1:200 live-born babies.
Journal ArticleDOI

Chromosome polymorphism in a human newborn population. II. Potentials of polymorphic chromosome variants for characterizing the idiogram of an individual.

TL;DR: The baseline data presented here reinforce the view that polymorphic chromosome characteristics are very useful markers for characterizing the karyotype of an infant born at the Albert Einstein College Hospital, Bronx, New York, and are consistent with the expectations of the Hardy-Weinberg law.
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