Literature DB >> 6694186

De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11 X 2q14 X 2).

Y Mu, D L Van Dyke, L Weiss, S Olgac.   

Abstract

A child is described with a de novo direct duplication of the region 2q11 X 2 leads to 2q14 X 2. She probably represents the first reported case of proximal 2q duplication. The abnormalities included short stature, microcephaly, brachycephaly, depressed nasal bridge, prominent philtrum, congenital glaucoma, and mental retardation.

Entities:  

Mesh：

Year:  1984        PMID： 6694186      PMCID： PMC1049208          DOI： 10.1136/jmg.21.1.57

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


  3 in total

1.  Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings.

Authors:  R Bernstein; T Jenkins; B Dawson; J Wagner; G Dewald; G C Koo; S S Wachtel
Journal:  J Med Genet       Date:  1980-08       Impact factor: 6.318

2.  Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation.

Authors:  P Steinbach; W Horstmann; W Scholz
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

3.  The origin of inverted tandem duplications, and phenotypic effects of tandem duplication of the X chromosome long arm.

Authors:  D L Van Dyke; M J Miller; L Weiss
Journal:  Am J Med Genet       Date:  1983-07
  3 in total
  2 in total

1.  Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.

Authors:  I A Glass; P Stormer; P T Oei; E Hacking; P D Cotter
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

2.  Partial trisomy for 2q in a patient with dir dup(2) (q33.1q35).

Authors:  D R Romain; N G Mackenzie; D Moss; L M Columbano-Green; R H Smythe; R G Parfitt; J W Dixon
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318
  2 in total

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