De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.
AUTOR(ES)
Donnenfeld, A E
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1050155Documentos Relacionados
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