Literature DB >> 3561952

Partial trisomy 6q and bilateral retinal detachment.

M E Pierpont, K G MacCarthy, W H Knobloch.   

Abstract

An eight-year-old boy with trisomy 6q13----q21 is described with growth retardation, severe mental retardation, unusual facies, cleft palate, joint contractures and bilateral retinal detachment. To the authors' knowledge, this is the first case in which such an association has been recorded.

Entities:  

Mesh:

Year:  1986        PMID: 3561952     DOI: 10.3109/13816818609004135

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN: 0167-6784


  2 in total

Review 1.  Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.

Authors:  E K Pivnick; M B Qumsiyeh; A T Tharapel; J B Summitt; R S Wilroy
Journal:  J Med Genet       Date:  1990-08       Impact factor: 6.318

2.  Prenatal detection of pure proximal 6q14.1 microduplication encompassing LCA5 gene: A variant of likely benign.

Authors:  Fagui Yue; Hongguo Zhang; Lili Luo; Ruizhi Liu; Jili Jing
Journal:  Medicine (Baltimore)       Date:  2022-06-17       Impact factor: 1.817

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.