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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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Journal Article

Multiplex PCR based screening for microdeletions in azoospermia factor region of Y chromosome in azoospermic and severe oligozoospermic south Indian men

TL;DR: A STS based multiplex PCR protocol is designed and optimized, which could be helpful for the clinicians to detect the Y chromosomal deletions rapidly and specifically, within the AZF locus.
Journal ArticleDOI

Pericentric inversion with a minute deletion of the Y chromosome in a severely oligozoospermic man.

TL;DR: An apparent pericentric inversion of the Y chromosome in a severely oligozoospermic infertile patient is described and DNA analysis revealed a deletion involving nine loci within the most distal part of the euchromatic region of the long arm.
Journal Article

Genetic and environmental factors involved in human male infertility: a review

TL;DR: The introduction of molecular techniques, such as intracytoplasmic sperm injection, genomics, proteomics, metabolamics, has provided great perception into the genetics of infertility, but understanding to find a correlation between genotype and phenotype in male infertility remains limited.

Genes in genital malformations and male reproductive health

TL;DR: This review summarizes the information currently available on the genetics of major events in male sex differentiation and briefly discusses the collaborative role environment may play in disrupting different components of this process.
Journal ArticleDOI

Molecular analysis of aberrations of Xp and Yq.

TL;DR: The three examples demonstrate the importance of diagnostic DNA analysis in cases of marker chromosomes, and X and Y chromosomal aberrations, and the findings in the patients facilitate further deletion mapping of euchromatic Yq.
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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