The hand-foot-genital syndrome: on the variable expression in affected males.
In this report we document male-to-male transmission in the hand-foot-genital syndrome. An affected father transmitted the syndrome to his three sons. A grade IV hypospadias, which was the most severe genital anomaly in affected males, was present in the youngest, moderately mentally retarded microcephalic male sibling.
Fryns
J P
JP
Centre for Human Genetics, University of Leuven, Belgium.
Vogels
A
A
Decock
P
P
van den Berghe
H
H
D000015:Abnormalities, Multiple / Q000235:genetics*; D005532:Foot Deformities, Congenital / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome