Literature DB >> 2303249

Maternal meiosis II nondisjunction in a case of 47,XXY testicular feminization.

U Müller1, N R Schneider, J F Marks, K G Kupke, G N Wilson.   

Abstract

An 11-year-old patient with incomplete testicular feminization and a 47,XXY karyotype is described. The patient had female external genitalia, clitoromegaly, and some features of Klinefelter's syndrome, including speech delay and delayed intellectual development. DNA analysis using X chromosomal DNA sequences suggest that the supernumerary X chromosome in the patient resulted from maternal nondisjunction during meiosis II. The M II error thereby provides the basis for homozygosity of a mutation in the androgen receptor locus.

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Year:  1990        PMID： 2303249     DOI： 10.1007/bf00200578

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  26 in total

1.  The syndrome of testicular feminization in male pseudohermaphrodites.

Authors:  J M MORRIS
Journal:  Am J Obstet Gynecol       Date:  1953-06       Impact factor: 8.661

2.  Testicular feminisation and inguinal hernia.

Authors:  E Pergament; A Heimler; P Shah
Journal:  Lancet       Date:  1973-09-29       Impact factor: 79.321

3.  Sex chromosome mosaicism in the testicular feminization syndrome.

Authors:  D L Gordon; E Krmpotic; B B Zelinger; L E Rosenblum
Journal:  Obstet Gynecol       Date:  1969-12       Impact factor: 7.661

4.  Testicular feminization in monozygotic twins with 47 chromosomes (XXY).

Authors:  J German; M Vesell
Journal:  Ann Genet       Date:  1966

5.  A primary genetic map of the pericentromeric region of the human X chromosome.

Authors:  M M Mahtani; H F Willard
Journal:  Genomics       Date:  1988-05       Impact factor: 5.736

6.  Multi-allelic RFLP for M27 beta, an anonymous single copy genomic clone at Xp11.3-Xcen [HGM9 provisional no. DXS255].

Authors:  N J Fraser; Y Boyd; G G Brownlee; I W Craig
Journal:  Nucleic Acids Res       Date:  1987-11-25       Impact factor: 16.971

7.  A strategy to reveal high-frequency RFLPs along the human X chromosome.

Authors:  J Aldridge; L Kunkel; G Bruns; U Tantravahi; M Lalande; T Brewster; E Moreau; M Wilson; W Bromley; T Roderick
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

8.  Cloning of human androgen receptor complementary DNA and localization to the X chromosome.

Authors:  D B Lubahn; D R Joseph; P M Sullivan; H F Willard; F S French; E M Wilson
Journal:  Science       Date:  1988-04-15       Impact factor: 47.728

9.  A case of testicular feminization with chromosome mosaicism.

Authors:  J G Forsberg; B Hall; A B Rydén
Journal:  Acta Obstet Gynecol Scand       Date:  1965       Impact factor: 3.636

10.  Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism.

Authors:  C J Brown; S J Goss; D B Lubahn; D R Joseph; E M Wilson; F S French; H F Willard
Journal:  Am J Hum Genet       Date:  1989-02       Impact factor: 11.025
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  1 in total

1.  A 47,XXY female with unusual genitalia.

Authors:  M Schmid; M Guttenbach; H Enders; V Terruhn
Journal:  Hum Genet       Date:  1992-12       Impact factor: 4.132
  1 in total

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