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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 ArticleDOI

Sex chromosome aberrations and stature : deduction of the principal factors involved in the determination of adult height

TL;DR: The results indicate that the adult height in patients with sex chromosome aberrations may primarily be defined by the dosage effect of pseudoautosomal and Y-specific growth genes, together with the degree of growth disadvantage caused by alteration of the quantity of euchromatic or non-inactivated region.
Journal ArticleDOI

Genetic Dissection of the AZF Regions of the Human Y Chromosome: Thriller or Filler for Male (In)fertility?

TL;DR: Analysis of the 14 different AZF genes or gene families argues for the existence of functional asymmetries between the determinants; while some are prominent players in spermatogenesis, others seem to modulate more subtly the program.
Journal ArticleDOI

The human DAZ genes, a putative male infertility factor on the Y chromosome, are highly polymorphic in the DAZ repeat regions.

TL;DR: The presence of multiple species of DAZ transcripts with different copy number and arrangement of the DAZ repeats in an individual suggests that more than one DAZ gene are transcribed, and complicates the analysis of genotype/phenotype correlations among males with varying sperm counts.
Journal ArticleDOI

Update in the evaluation of the azoospermic male

TL;DR: Men with nonobstructive azoospermia should be offered genetic counseling before their spermatozoa are used for assisted reproductive techniques, and a thorough medical history, physical examination and hormonal profile are essential.
Journal ArticleDOI

Towards an understanding of the genetics of human male infertility: lessons from flies

TL;DR: It is suggested that the control of human male fertility is of at least comparable genetic complexity, but because of small family size, conventional positional cloning methods for identifying human genes will have little impact on the dissection of male infertility.
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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