Literature DB >> 575389

A case of complete testicular feminisation and 47,XXY karyotype.

M Gerli, G Migliorini, V Bocchini, G Venti, R Ferrarese, E Donti, G Rosi.   

Abstract

A very rare case of complete testicular feminisation with a 47,XXY sex chromosome complement is described. The X-chromatin is positive. The subject studied, who belongs to a family in which four other members have Morris's syndrome and have a 46,XY karyotype, is a perfect phenotypic female. The endocrine situation is unique and resembles, in part, that of subjects with Klinefelter's syndrome.

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Mesh：

Year:  1979        PMID： 575389      PMCID： PMC1012597          DOI： 10.1136/jmg.16.6.480

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  7 in total

1.  [A case of testicular feminization with the karyotype 47, XXY (author's transl)].

Authors:  M Bartsch-Sandhoff; L Stephan; G Röhrborn; I H Pawlowitzki; W Scholz
Journal:  Hum Genet       Date:  1976-01-28       Impact factor: 4.132

2.  Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity.

Authors:  W J Meyer; B R Migeon; C J Migeon
Journal:  Proc Natl Acad Sci U S A       Date:  1975-04       Impact factor: 11.205

3.  C bands in human metaphase chromosomes treated by barium hydroxide.

Authors:  F Salamanca; S Armendares
Journal:  Ann Genet       Date:  1974-06

4.  [A new technic of analysis of the human karyotype].

Authors:  B Dutrillaux; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1971-05-17

5.  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

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

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

7.  Endocrinological studies of a case of mosaicism (XO-XY-XXY) with clinical appearance of testicular feminization syndrome.

Authors:  T Uozumi; R Nozaki; K Matsumoto; T Seki; J Furuyama
Journal:  Acta Endocrinol (Copenh)       Date:  1967-02
  7 in total
  3 in total

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

Authors:  U Müller; N R Schneider; J F Marks; K G Kupke; G N Wilson
Journal:  Hum Genet       Date:  1990-02       Impact factor: 4.132

2.  Expression of a mutant androgen receptor in cloned fibroblasts derived from a heterozygous carrier for the syndrome of testicular feminization.

Authors:  M K Elawady; D R Allman; J E Griffin; J D Wilson
Journal:  Am J Hum Genet       Date:  1983-05       Impact factor: 11.025

3.  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
  3 in total

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