Literature DB >> 7327549

Dicentric Y chromosome in a patient with gonadal dysgenesis and seminoma.

G Ponzio, M DeMarchi, A Carbonara, A Godano, F Massara.   

Abstract

A male patient with ambiguous external genitalia developed a seminoma in the left inguinal region; his internal genitalia included a streak gonad on the right and a small uterus. Cytogenetic studies demonstrated a dicentric Y chromosome with unstable behavior during cell division, which resulted in 45,X/46,X,dic(Y)/47,X,dic(Y),dic(Y) mosaicism. Immunogenetic studies allowed the identification of the male-determining H-Y antigen on both leukocytes and red cells of the patient. The significance of these results is discussed with respect to recent data on the genetic control of H-Y antigen.

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Year:  1981        PMID： 7327549     DOI： 10.1007/bf00294924

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


  10 in total

1.  Mapping the locus of the H-Y gene on the human Y chromosome.

Authors:  G C Koo; S S Wachtel; K Krupen-Brown; L R Mittl; W R Breg; M Genel; I M Rosenthal; D S Borgaonkar; A D Miller; R Tantravahi; R R Schreck; B F Erlanger; O J Miller
Journal:  Science       Date:  1977-12-02       Impact factor: 47.728

2.  A mitotically unstable human dicentric Y chromosome in a male pseudohermaphrodite.

Authors:  P D Buchanan; H E Wyandt; A J D'Ercole; K W Rao; M L Hartsell
Journal:  Cytogenet Cell Genet       Date:  1976

3.  [Dicentric Y chromosome in a male pseudohermaphrodite 45,X/46,X, dic (Y)/47, XYY].

Authors:  M Roubin; J de Grouchy; P Chauveau; R Rappaport; D Pellerin
Journal:  Ann Genet       Date:  1977-09

4.  Structural aberrations of the Y chromosome and the corresponding phenotype. Report of a case with the karotype 45,X-46,X,i(Yp).

Authors:  J W Siebers; W Vogel; H Hepp; H Bolze; A Dittrich
Journal:  Humangenetik       Date:  1973

5.  Human dicentric Y chromosomes. Case report and review of the literature.

Authors:  M M Cohen; M H MacGillivray; V J Capraro; T A Aceto
Journal:  J Med Genet       Date:  1973-03       Impact factor: 6.318

Review 6.  A synopsis of the human Y chromosome.

Authors:  E M Bühler
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

7.  A gene controlling H-Y antigen on the X chromosome. Tentative assignment by deletion mapping to Xp223.

Authors:  U Wolf; M Fraccaro; A Mayerová; T Hecht; P Maraschio; H Hameister
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

8.  Turner syndrome patients are H-Y positive.

Authors:  U Wolf; M Fraccaro; A Mayerová; T Hecht; O Zuffardi; H Hameister
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

9.  Sexual and somatic determinants of the human Y chromosome: studies in a 46,XYp- phenotypic female.

Authors:  R G Rosenfeld; L Luzzatti; R L Hintz; O J Miller; G C Koo; S S Wachtel
Journal:  Am J Hum Genet       Date:  1979-07       Impact factor: 11.025

10.  Unstable dicentric iso(Yq) chromosome in a pseudohermaphrodite.

Authors:  D S Alexander; D Soudek; P Laraya
Journal:  Am J Med Genet       Date:  1978
  10 in total
  2 in total

Review 1.  Genetic aspects of H-Y antigen.

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

Review 2.  Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature.

Authors:  C M Tuck-Muller; H Chen; J E Martínez; C C Shen; S Li; C Kusyk; D A Batista; Y M Bhatnagar; E Dowling; W Wertelecki
Journal:  Hum Genet       Date:  1995-07       Impact factor: 4.132
  2 in total

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