| Literature DB >> 14762456 |
M Fran Lynch1, Caraciolo J Fernandes, Lisa G Shaffer, Lorraine Potocki.
Abstract
Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We describe two previously unreported abnormalities in this condition and delineate physical and psychomotor features and concerns for medical management. Trisomy 14 mosaicism should be suspected in individuals who have the features described herein, thus prompting cytogenetic evaluation of blood, and possibly other tissues for diagnosis.Entities:
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Year: 2004 PMID: 14762456 DOI: 10.1038/sj.jp.7211048
Source DB: PubMed Journal: J Perinatol ISSN: 0743-8346 Impact factor: 2.521