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.read more
Citations
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Journal ArticleDOI
Identification of genomic imbalances (CNVs as well as LOH) in sertoli cell only syndrome cases through cytoscan microarray.
TL;DR: In this article, the authors evaluated the genomic imbalances (CNVs and LOH) in idiopathic SCOS patients and found that high FSH and low Inhibin B were observed in cases as compared to control controls groups.
Journal ArticleDOI
Comparative studies in two cases of testicular feminization syndrome, one with and the other without the fluorescent distal band q12 of the Y
TL;DR: The assumption that the constitutive Y heterochromatin could function as a regulator of steroid biosynthesis and metabolism, with or without effect at other levels, was not firmly supported and further studies along this line may help elucidate the biologic role of this portion of the Y chromosome in humans.
Journal ArticleDOI
A unique case of growth hormone and human chorionic gonadotropin treatment in a 45,X male with Y: autosome translocation and literature review.
TL;DR: A unique case of an unbalanced translocation t(Y;21) in a 14-year-old boy with 45,X karyotype referred because of short stature, thin habitus and puberty delay is reported.
Journal ArticleDOI
Use of deoxyribonucleic acid probes to test for Yq11 deletions in males with spermatogenic arrest
TL;DR: From preliminary analyses, the authors conclude that the regions detected by these two probes are not absent in these azoospermic males and that the cause of their spermatogenic arrest may not involve deletion within this region.
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
Structural abnormalities of the Y chromosome in man.
Patricia A. Jacobs,A. Ross +1 more
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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