Congenital camptodactyly associated with the 48,XXYY syndrome.
A male premature infant presented with slow development and congenital camptodactyly of both hands. Chromosome analysis showed a 48,XXYY karyotype. As far as we know, this is the first report describing congenital camptodactyly associated with the 48,XXYY syndrome.
Bosch
A M
AM
Department of Pediatrics, Medical Centre Alkmaar, The Netherlands.
Hack
W W
WW
Schrander-Stumpel
C T
CT
D000013:Congenital Abnormalities / Q000175:diagnosis / Q000235:genetics; D003286:Contracture / Q000235:genetics*; D005307:Fertilization in Vitro; D005385:Fingers / Q000002:abnormalities*; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014310:Triplets; D014960:X Chromosome; D014998:Y Chromosome