Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism?
We describe the clinical histories and physical findings most compatible with the diagnosis of Floating-Harbor syndrome in two sisters. The genetic basis of the Floating-Harbor syndrome is still unclear, and family data are in favour of autosomal recessive inheritance although germinal mosaicism for an autosomal dominant gene mutation cannot be fully excluded.
Ioan
D M
DM
Department of Human Genetics, Institute of Endocrinology, Bucharest, Roumania.
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D019465:Craniofacial Abnormalities / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007805:Language Development Disorders / Q000235:genetics*; D009030:Mosaicism; D013577:Syndrome