De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.
Open Access
- 1 July 1987
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 24 (7) , 436-439
- https://doi.org/10.1136/jmg.24.7.436
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.Keywords
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