Literature DB >> 3987078

Inherited tandem duplication dup(X) (q131-q212) in a male proband.

L O Vejerslev, M Rix, B Jespersen.   

Abstract

A tandem duplication dup(X) (q131-q212) has been diagnosed neonatally because of the peculiar appearance. Family investigation demonstrated that the duplication has segregated through phenotypically normal female carriers for at least three generations. Inactivation studies showed that the aberrant X was preferentially late replicating. The difficulties related to prenatal diagnosis of minor X chromosome aberrations in males are discussed.

Mesh：

Year:  1985        PMID： 3987078     DOI： 10.1111/j.1399-0004.1985.tb00220.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  13 in total

1.  Duplications of the X chromosome in males: evidence that most parts of the X chromosome can be active in two copies.

Authors:  M Schmidt; D Du Sart; P Kalitsis; M Leversha; S Dale; L Sheffield; D Toniolo
Journal:  Hum Genet       Date:  1991-03       Impact factor: 4.132

2.  Physical mapping of an Xq-proximal interstitial duplication in a male.

Authors:  F Muscatelli; J M Verna; N Philip; A Moncla; M G Mattei; J F Mattei; M Fontes
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

3.  Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation.

Authors:  T Ogata; J R Hawkins; A Taylor; N Matsuo; J Hata; P N Goodfellow
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

Review 4.  Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.

Authors:  E Hatchwell
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

5.  Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic error.

Authors:  S Schwartz; M F Schwartz; S R Panny; C J Peterson; E Waters; M M Cohen
Journal:  Am J Hum Genet       Date:  1986-05       Impact factor: 11.025

6.  Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia Native kindreds.

Authors:  S M Gorski; K J Adams; P H Birch; B N Chodirker; C R Greenberg; P J Goodfellow
Journal:  Hum Genet       Date:  1994-08       Impact factor: 4.132

7.  An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region.

Authors:  F P Cremers; R A Pfeiffer; T J van de Pol; M H Hofker; T A Kruse; B Wieringa; H H Ropers
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

8.  Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.

Authors:  F P Cremers; T J van de Pol; B Wieringa; M H Hofker; P L Pearson; R A Pfeiffer; M Mikkelsen; A Tabor; H H Ropers
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

9.  Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.

Authors:  Marlène Rio; Valérie Malan; Sarah Boissel; Annick Toutain; Ghislaine Royer; Stéphanie Gobin; Nicole Morichon-Delvallez; Catherine Turleau; Jean-Paul Bonnefont; Arnold Munnich; Michel Vekemans; Laurence Colleaux
Journal:  Eur J Hum Genet       Date:  2009-10-21       Impact factor: 4.246

Review 10.  Duplication of the short arm of the X chromosome in mother and daughter.

Authors:  C M Tuck-Muller; J E Martinez; D A Batista; W G Kearns; W Wertelecki
Journal:  Hum Genet       Date:  1993-05       Impact factor: 4.132
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