Literature DB >> 1481811

Infant with del(3) (p25-pter): karyotype-phenotype correlation and review of previously reported cases.

H Nienhaus1, U Mau, K D Zang.   

Abstract

We describe a boy with monosomy for the distal part of the short arm of chromosome 3. He had a congenital heart defect, tetramelic hexadactyly, and typical craniofacial anomalies. Comparison with previously reported cases confirms that the phenotype consists of an identifiable pattern of malformation.

Entities:  

Mesh：

Year:  1992        PMID： 1481811     DOI： 10.1002/ajmg.1320440508

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  4 in total

1.  Del(3) (p25.3) without phenotypic effect.

Authors:  L A Knight; M H Yong; M Tan; I S Ng
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

2.  Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p.

Authors:  A Moncla; N Philip; J F Mattei
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318

3.  Misguided axonal projections, neural cell adhesion molecule 180 mRNA upregulation, and altered behavior in mice deficient for the close homolog of L1.

Authors:  M Montag-Sallaz; M Schachner; D Montag
Journal:  Mol Cell Biol       Date:  2002-11       Impact factor: 4.272

4.  A rare chromosome 3 imbalance and its clinical implications.

Authors:  Karen Sims; Roberto L P Mazzaschi; Emilie Payne; Ian Hayes; Donald R Love; Alice M George
Journal:  Case Rep Pediatr       Date:  2012-10-11
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.