Literature DB >> 7205196

Partial 8p- syndrome.

S R Patil, J W Hanson.   

Abstract

A terminal deletion in the short arm of chromosome 8 (:p21 leads to qter) was found in a two years old girl with dysmorphic craniofacial features and developmental retardation. Clinical features are compared with previously published cases and suggest a recognizable syndrome.

Entities:  

Mesh：

Year:  1980        PMID： 7205196

Source DB:  PubMed          Journal:  J Genet Hum        ISSN： 0021-7743


  3 in total

Review 1.  Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation.

Authors:  M J Pettenati; N Rao; C Johnson; R Hayworth; K Crandall; O Huff; I T Thomas
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

2.  Partial monosomy 8p with minimal dysmorphic signs.

Authors:  E Blennow; K Bröndum-Nielsen
Journal:  J Med Genet       Date:  1990-05       Impact factor: 6.318

3.  Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

Authors:  Margaret J Wat; Oleg A Shchelochkov; Ashley M Holder; Amy M Breman; Aditi Dagli; Carlos Bacino; Fernando Scaglia; Roberto T Zori; Sau Wai Cheung; Daryl A Scott; Sung-Hae Lee Kang
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802
  3 in total

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