Trisomy 8 mosaicism in a patient with heterotaxia.
Constitutional trisomy 8 mosaicism (CT8M) is a relatively rare trisomy in humans with a characteristic phenotype. We report an infant with the characteristic CT8M phenotype in addition to heterotaxia. A number of chromosomal abnormalities have been reported in association with laterality defects but this is the first time heterotaxia is reported in CT8M. In addition to expanding CT8M phenotype, our report may provide insight into the mechanism of heterotaxia.
Alkuraya
Fowzan S
FS
Division of Genetics and Metabolism, Department of Medicine, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA. Fowzan.Alkuraya@childrens.harvard.edu
Harris
David J
DJ
D002898:Chromosomes, Human, Pair 8; D004947:Esophagus / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D011859:Radiography; D014314:Trisomy / Q000503:physiopathology*; D014781:Viscera / Q000002:abnormalities*