| Literature DB >> 3612721 |
A E Donnenfeld, E H Zackai, D M McDonald, R Aquino, B S Emanuel.
Abstract
We report a female infant diagnosed shortly after birth as having Smith-Lemli-Opitz syndrome. Despite previously reported normal G banded karyotypes, a high resolution banded chromosome analysis identified 46,XX,2q+. The importance of attention to established features of clinical syndromes, as well as persistence in investigation when diagnostic uncertainties exist, are discussed.Entities:
Mesh：
Year: 1987 PMID： 3612721 PMCID： PMC1050155 DOI： 10.1136/jmg.24.7.436
Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318