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
Short stature and azoospermia in a patient with Y chromosome long arm deletion.
M. De Rosa,D. De Brasi,S. Zarrilli,L. Paesano,Rosario Pivonello,Antonella D’Agostino,Salvatore Longobardi,Bartolomeo Merola,Giovanni Lupoli,Tsutomu Ogata,G. Lombardi +10 more
TL;DR: A wide Y long arm deletion, including all hypothized Yq azoospermia loci and possibly the Y-specific growth control region (GCY), mapped between DYS11 and DYS246 loci is responsible for the complete azoOSpermia of the patient and probably also for his short stature, even if other factors could be implicated in the statural impairment.
Journal ArticleDOI
Expression of a novel HsMCAK mRNA splice variant, tsMCAK gene, in human testis
Li Jun Cheng,Zuo Min Zhou,Jianmin Li,Hui Zhu,Hu Zhu,Ya Dong Zhou,Lirong Wang,Min Lin,Jia Hao Sha +8 more
TL;DR: Results suggested that tsMCAK is a candidate gene for the testis-specific KRPs and its specific expression in theTestis was correlated with spermatogenesis and may be correlated with male infertility.
Journal ArticleDOI
A cost-effective screening test for detecting AZF microdeletions on the human Y chromosome.
Patrícia de Campos Pieri,Dirceu H. Pereira,Sidney Glina,Jorge Hallak,Ken McElreavey,Carlos Alberto Moreira-Filho +5 more
TL;DR: A comparison of the results with those reported in the literature showed similar microdeletion detection frequencies, demonstrating that the set-of-6 primers provides a reliable, simple and cost-effective way of detecting AZF deletions.
Journal ArticleDOI
Deletion and duplication at DYS448 and DYS626 loci: unexpected patterns within the AZFc region of the Y-chromosome.
TL;DR: Two cases are described, involving two males formerly included in an Italian population study, where DYS448 and DYS626 loci, located within the AZFc region, simultaneously displayed a double deletion in one case and a double duplication in the other.
Journal ArticleDOI
Construction, analysis, and application to 46,XY gonadal dysgenesis of a recombinant phage DNA library from flow-sorted human Y chromosomes.
TL;DR: The analysis of a recombinant human Y-enriched Hind III total digest phage library prepared from the DNA of flow sorted human Y chromosomes is described and hybridization with Y chromosomal DNA is revealed.
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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