Literature DB >> 926138

X/XYq - mosaicism and mixed gonadal dysgenesis.

E Yunis, R Silva, E Ramirez, M A Nossa.   

Abstract

A non-fluorescent Y chromosome was observed in a phenotypic male with 45,X/46,XYq-mosaicism and mixed gonadal dysgenesis. Q-banding of the father's chromosomes showed a normally fluorescent Y. Measurements of the Y chromosomes in the father and the patient showed a significant difference in length. Evidence for translocation of the Y fluorescent segment to another chromosome was lacking in the present case.

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Year:  1977        PMID： 926138      PMCID： PMC1013580          DOI： 10.1136/jmg.14.4.262

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


  9 in total

1.  A probable partial deletion of the Y chromosome in an intersex patient.

Authors:  P E CONEN; J D BAILEY; W H ALLEMANG; D W THOMPSON; C EZRIN
Journal:  Lancet       Date:  1961-08-05       Impact factor: 79.321

2.  Non-fluorescent and non-heterochromatic Y chromosome in 45, X 46,XY mosaicism.

Authors:  L Y Hsu; H J Kim; S Paciuc; L Steinfeld; K HirshhorHirschhorn
Journal:  Ann Genet       Date:  1974-03

3.  A Y-autosome translocation 46,X,t(Yq-7q+) associated with multiple congenital anomalies.

Authors:  A J Develing; F A Conte; C J Epstein
Journal:  J Pediatr       Date:  1973-03       Impact factor: 4.406

4.  Non-fluorescent Y chromosome in a 45,X-46,XY mosaic.

Authors:  F Lo Curto; S Scappaticci; O Zuffardi; G Chierichetti; M Fraccaro
Journal:  Ann Genet       Date:  1972-06

5.  A familial Y-autosome translocation in man.

Authors:  B Noel; I Emerit; J M Luciani; B Quack
Journal:  Clin Genet       Date:  1971       Impact factor: 4.438

6.  Dicentric Y chromosome in mixed gonadal dysgenesis.

Authors:  A Hayek; E Yunis
Journal:  J Med Genet       Date:  1975-06       Impact factor: 6.318

7.  Mixed gonadal dysgenesis.

Authors:  F Davidoff; D D Federman
Journal:  Pediatrics       Date:  1973-11       Impact factor: 7.124

8.  Translocations causing non-fluorescent Y chromosomes in human XO/XY mosaics.

Authors:  T Caspersson; M Hultén; J Jonasson; J Lindsten; A Therkelsen; L Zech
Journal:  Hereditas       Date:  1971       Impact factor: 3.271

9.  XY-XYY mosaicism associated with major genital defects.

Authors:  E Yunis; M Mendez
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438
  9 in total
  3 in total

Review 1.  A synopsis of the human Y chromosome.

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

Review 2.  Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.

Authors:  R M Davis
Journal:  J Med Genet       Date:  1981-06       Impact factor: 6.318

3.  XO/XY mosaicism and non-fluorescing Y chromosome in a male.

Authors:  B W Richards; A Stewart
Journal:  Hum Genet       Date:  1978-12-29       Impact factor: 4.132
  3 in total

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