Literature DB >> 7352285

Abnormality of the X chromosome in human 46,XY female siblings with dysgenetic ovaries.

R Bernstein, G C Koo, S S Wachtel.   

Abstract

An abnormal extra band was found on the short arm of the X chromosome in a 46,XY female and in her 46,XY female fetal sibling. Despite presence of the intact Y chromosome, there was no evidence of testicular differentiation in either subject. Production of H-Y antigen was suppressed in both subjects. The data suggest that development of the mammalian testis requires a normal function of the X chromosome.

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Year:  1980        PMID： 7352285     DOI： 10.1126/science.7352285

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  17 in total

Review 1.  Testis-organizing H-Y antigen as a discrete protein; its MHC restricted recognition and the genomic environment in which H-Y gene operates.

Authors:  S Ohno; J T Epplen; S Sutou
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

2.  New genes for boys.

Authors:  A H Sinclair
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025

Review 3.  Variability in serologically detected male antigen titer and some resulting problems: a critical review.

Authors:  M T Zenzes; T E Reed
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

4.  Absence of H-Y antigen in a case of sporadic pure gonadal dysgenesis.

Authors:  C Boucekkine; M Benmiloud; B Himeur; A Chouiter; M Bachammar
Journal:  J Endocrinol Invest       Date:  1984-06       Impact factor: 4.256

5.  Ovarian development in 46,XY gonadal dysgenesis.

Authors:  M H Russell; S S Wachtel; B W Davis; L T Cahill; E Groos; G D Niblack; I M Burr
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

Review 6.  Human sexual development.

Authors:  S S Wachtel
Journal:  J Endocrinol Invest       Date:  1984-12       Impact factor: 4.256

Review 7.  Primary sex determination: genetics and biochemistry.

Authors:  J L Hall; S S Wachtel
Journal:  Mol Cell Biochem       Date:  1980-12-10       Impact factor: 3.396

Review 8.  Genetic aspects of H-Y antigen.

Authors:  U Wolf
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

9.  Investigation of the ZFY gene in XX true hermaphroditism and Swyer syndrome.

Authors:  D Damiani; A E Billerbeck; A C Goldberg; N Setian; M Fellous; J Kalil
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

10.  H-Y antigen in X,i(Xq) gonadal dysgenesis: evidence of X-linked genes in testicular differentiation.

Authors:  S S Wachtel; G C Koo; W R Breg; M Genel
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132
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