| Literature DB >> 9934979 |
C Mas1, M B Delatycki, R G Weintraub.
Abstract
We report on a pair of monozygotic twins with persistent truncus arteriosus. They had no evident clinical signs of DiGeorge syndrome. Pathologic examination of the placenta and DNA analysis in chromosomes 7, 8, and 15 was consistent with monozygosity. Fluorescence in situ hybridization test was negative for chromosome 22q11 microdeletion. Family history revealed a female cousin with tetralogy of Fallot. The isolated presence of this conotruncal abnormality in monozygotic twins is extremely rare. The genetic considerations are discussed.Entities:
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Year: 1999 PMID： 9934979 DOI： 10.1002/(sici)1096-8628(19990115)82:2<146::aid-ajmg9>3.0.co;2-p
Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299