Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome. Two affected halfsisters and normal father.
In this report we present two halfsisters with typical cleft hand/cleft foot syndrome. Their father is normal, and family history is negative. This observation provides further evidence for germinal mosaicism in this autosomal dominant condition, with variable expression and penetrance.
De Smet
L
L
Department of Orthopedic Surgery, University of Leuven, Belgium.
Devriendt
K
K
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics* / Q000473:pathology; D005854:Germ Cells / Q000648:ultrastructure; D006228:Hand Deformities, Congenital / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D010375:Pedigree