Literature DB >> 9678707

Mosaicism for a tandem duplication dup(1)(q12q22) in an 18 year old female.

D de Silva1, D Massie, J Drummond, D Couzin, J C Dean.   

Abstract

The clinical features and cytogenetic results of an 18 year old mentally handicapped female found to be a mosaic for a tandem duplication of chromosome 1 (46,XX,dup(1)(q12q22)/46,XX) are reported. The case is compared with the three previously described cases and possible mechanisms for the origin of the duplication are discussed. This patient was not found to have features of Proteus syndrome which was previously reported in a subject mosaic for a tandem duplication involving chromosome (1)(q11q25).

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Year:  1998        PMID： 9678707      PMCID： PMC1051373          DOI： 10.1136/jmg.35.7.600

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


  6 in total

1.  Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21.

Authors:  J L Blouin; A Aurias; N Créau-Goldberg; F Apiou; C Alcaide-Loridan; A Bruel; M Prieur; J Kraus; J M Delabar; P M Sinet
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

2.  Selective deficiency of antibody responses to polysaccharide antigens in a child mosaic for partial trisomy 1 (46,XX,dir dup (1) (q12----q23)/46,XX).

Authors:  E L Germain-Lee; G Schiffman; E H Mules; H M Lederman
Journal:  J Pediatr       Date:  1990-07       Impact factor: 4.406

3.  Tandem duplication (1) (q11----q22) in a male infant with multiple congenital malformations.

Authors:  F Mertens; B Johansson; M Forslund; M Olsson; U Kristoffersson
Journal:  Clin Genet       Date:  1987-07       Impact factor: 4.438

4.  Report of a case resembling the Proteus syndrome with a chromosome abnormality.

Authors:  B Say; N J Carpenter
Journal:  Am J Med Genet       Date:  1988-12

5.  Cutaneous manifestation of lethal genes.

Authors:  R Happle
Journal:  Hum Genet       Date:  1986-03       Impact factor: 4.132

Review 6.  Proteus syndrome: clinical evidence for somatic mosaicism and selective review.

Authors:  M M Cohen
Journal:  Am J Med Genet       Date:  1993-10-01
  6 in total
  1 in total

1.  Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism.

Authors:  Caroline Robberecht; Thierry Voet; Gülen E Utine; Albert Schinzel; Nicole de Leeuw; Jean-Pierre Fryns; Joris Vermeesch
Journal:  Mol Cytogenet       Date:  2012-04-10       Impact factor: 2.009
  1 in total

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