| Literature DB >> 12416638 |
M Tschernigg1, E Petek, A Leonhardtsberger, K Wagner, P M Kroisel.
Abstract
A new-born infant was found to have multiple congenital anomalies Including bilateral cleft of lip and palate, club-hands and feet, and heart defects. High resolution chromosome analysis showed a de novo tandem duplication of the terminal part of the short arm of chromosome 16, resulting in a dup(16)(pter-->p13). Fluorescent in situ hybridization with a chromosome 16-specific paint confirmed that the extra material belonged to chromosome 16.Entities:
Mesh：
Year: 2002 PMID： 12416638
Source DB: PubMed Journal: Genet Couns ISSN： 1015-8146