Literature DB >> 9098481

Supernumerary ring chromosome 17 identified by fluorescent in situ hybridization.

K Fagan1, M Edwards.   

Abstract

We present a patient with multiple anomalies and severe developmental delay. A small supernumerary ring chromosome was found in 40% of her lymphocyte cells at birth. The origin of the marker chromosome could not be determined by GTG banding, but fluorescent in situ hybridization (FISH) later identified the marker as deriving from chromosome 17.

Entities:  

Mesh:

Year:  1997        PMID: 9098481

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


  1 in total

1.  Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.

Authors:  Christine J Shaw; Pawel Stankiewicz; Gabriel Bien-Willner; Scott C Bello; Chad A Shaw; Marta Carrera; Luis Perez Jurado; Xavier Estivill; James R Lupski
Journal:  Hum Genet       Date:  2004-04-20       Impact factor: 4.132

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.