Literature DB >> 730165

Mosaicism for an additional partial chromosome 8: 46,XX/47,XX+der(8)(p21 leads to qter).

R A Pfeiffer, E Kessel, E Rathgen, M Kulenkampff, T Nehring.   

Abstract

Report on mosaicism of an additional deleted chromosome 8 in a 12-year-old girl. She exhibits several typical but minor features of the trisomy-8 syndrome. Her IQ is 77 (Hawik).

Entities:  

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Year:  1978        PMID： 730165     DOI： 10.1007/bf00295416

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


  6 in total

1.  Coagulation studies in patients with trisomy 8 syndrome.

Authors:  S Stenbjerg; S Husted; A Bernsen; P Jacobsen; J Nielsen; K Rasmussen
Journal:  Ann Genet       Date:  1975-12

2.  Mental retardation, absence of patellae, other malformations with chromosomal mosiacism.

Authors:  J WARKANY; J H RUBINSTEIN; S W SOUKUP; M C CU RLESS
Journal:  J Pediatr       Date:  1962-12       Impact factor: 4.406

3.  Trisomy 8 mosaicism. A case report and a proposed list of the clinical features.

Authors:  G Kosztolànyi; E M Bühler; P Elmiger; G R Stalder
Journal:  Eur J Pediatr       Date:  1976-11-03       Impact factor: 3.183

4.  [Chromosome 8 : complete trisomy and segmental trisomies].

Authors:  M O Rethoré; A Aurias; J Couturier; B Dutrillaux; M Prieur; J Lejeune
Journal:  Ann Genet       Date:  1977-03

5.  Mental retardation, absence of patellae, and other malformations with chromosomal mosaicism. A follow-up report.

Authors:  Y Nakagome; J Warkany; J H Rubinstein
Journal:  J Pediatr       Date:  1968-05       Impact factor: 4.406

6.  [Possible localization of the glutathione reductase (EC 1.6.4.2) on the 8p21 band].

Authors:  P M Sinet; J L Bresson; J Couturier; C Laurent; M Prieur; M O Rethoré; J L Taillemite; D Toudic; H Jérome; J Lejeune
Journal:  Ann Genet       Date:  1977-03
  6 in total

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