Literature DB >> 511171

Heteromorphic X chromosomes in 46,XX males?

A de la Chapelle, K Simola, P Simola, S Knuutila, N Gahmberg, L Pajunen, C Lundqvist, S Sarna, J Murros.   

Abstract

This paper reports an attempt to determine whether the short arm of one of the X chromosomes in XX males is longer than normal. In a blind study comparing coded photomicrographs of 15 G-banded mitoses from each of five XX males and five control females, the results were ambiguous and somewhat contradictory, but gave the impression of, or were compatible with, an XXp+ phenomenon in at least two of the five XX males. Measurements of the X chromosomes from the above cells and, in addition, from 15 mitoses from each of six XXY males, failed to disclose any XXp+ phenomenon. Statistical analysis indicated that in the five XX males there was no difference in the lengths of the two Xp arms. The reasons for the apparent discrepancy between the results of ocular inspection and measurement are discussed. The putative heteromorphism might be an alteration in shape, staining intensity, or position of bands, neither of which necessarily leads to an increase in length. We conclude that our results do not indicate any XXp+ phenomenon in the five XX males tested. However, the presence or absence of XXp+ is not in itself evidence for or against interchange betweenthe X and Y in the paternal meiosis. Our results emphasize that the etiology of XX males is likely to be heterogeneous.

Mesh:

Year:  1979        PMID: 511171     DOI: 10.1007/bf00271568

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


  10 in total

1.  XX SEX CHROMOSOMES IN A HUMAN MALE. FIRST CASE.

Authors:  A DELACHAPELLE; H HORTLING; M NIEMI; J WENNSTROEM
Journal:  Acta Med Scand       Date:  1964

2.  Chromosome measurements on an XXp+ male.

Authors:  K Madan
Journal:  Hum Genet       Date:  1976-05-19       Impact factor: 4.132

3.  Serologic detection of a y-linked gene in xx males and xx true hermaphrodites.

Authors:  S S Wachtel; G C Koo; W R Breg; H T Thaler; G M Dillard; I M Rosenthal; H Dosik; P S Gerald; P Saenger; M New; E Lieber; O J Miller
Journal:  N Engl J Med       Date:  1976-09-30       Impact factor: 91.245

4.  X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome.

Authors:  M A Ferguson-Smith
Journal:  Lancet       Date:  1966-08-27       Impact factor: 79.321

5.  Letter: Possible evidence for Xp plus in and XX Male.

Authors:  K Madan; S Walker
Journal:  Lancet       Date:  1974-06-15       Impact factor: 79.321

6.  Heteromorphic X chromosomes in 46,XX males: evidence for the involvement of X-Y interchange.

Authors:  H J Evans; K E Buckton; G Spowart; A D Carothers
Journal:  Hum Genet       Date:  1979-05-23       Impact factor: 4.132

7.  Recessive sex-determining genes in human XX male syndrome.

Authors:  A de la Chapelle; G C Koo; S S Wachtel
Journal:  Cell       Date:  1978-11       Impact factor: 41.582

8.  Two further males with female karyotypes.

Authors:  A De la Chapelle; S Similä; M Lanning; M Kontturi; C J Johansson
Journal:  Humangenetik       Date:  1971

9.  Two XX males in one family and additional observations bearing on the etiology of XX males.

Authors:  A D Chapelle; J Schröder; J Murros; G Tallqvist
Journal:  Clin Genet       Date:  1977-02       Impact factor: 4.438

Review 10.  Analytic review: nature and origin of males with XX sex chromosomes.

Authors:  A de la Chapelle
Journal:  Am J Hum Genet       Date:  1972-01       Impact factor: 11.025

  10 in total
  6 in total

1.  Steroid sulphatase levels in XX males, including observations on two affected cousins.

Authors:  P Pierella; I Craig; M Bobrow; A de la Chapelle
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

2.  The parental origin of X chromosomes in XX males determined using restriction fragment length polymorphisms.

Authors:  D C Page; A de la Chapelle
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

Review 3.  A synopsis of the human Y chromosome.

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

Review 4.  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

5.  The etiology of maleness in XX men.

Authors:  A de la Chapelle
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

Review 6.  The human Y chromosome.

Authors:  P Goodfellow; S Darling; J Wolfe
Journal:  J Med Genet       Date:  1985-10       Impact factor: 6.318

  6 in total

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