| Literature DB >> 6723107 |
G Dudin, D Alexander, F Talj, M Deeb, S Musallam, V M Der Kaloustian.
Abstract
A six-months-old girl is presented with psychomotor retardation and multiple congenital malformations. The karyotype done on peripheral blood lymphocytes and skin fibroblasts was found to be 46,XX del(5)( q11q13 ). The parents are consanguineous. Their karyotypes were normal. The genes for Arylsulphatase B and Hexosaminidase B are not located in band 5q12 .Entities:
Mesh：
Year: 1984 PMID： 6723107 DOI： 10.1111/j.1399-0004.1984.tb02016.x
Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438