Duplication of 9q12-q33: a case report and implications for the dup(9q) syndrome.
We report on a boy with a direct tandem duplication of 9(q12-q33) and dolichocephaly, beaked nose with prominent philtrum, deep-set eyes, receding small chin, failure to thrive, developmental delay, simian creases, long fingers, stiff joints, and hypoplastic scrotum. This patient is compared to the 5 other reported cases with pure partial dup(9q), and the "trisomy 9q syndrome" described by Turleau et al. [1975].
Stalker
H J
HJ
Department of Pediatrics, Montreal Children's Hospital, Quebec, Canada.
Aymé
S
S
Delneste
D
D
Scarpelli
H
H
Vekemans
M
M
Der Kaloustian
V M
VM
D000015:Abnormalities, Multiple / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9; D005183:Failure to Thrive; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D005810:Multigene Family; D009666:Nose / Q000002:abnormalities; D012611:Scrotum / Q000002:abnormalities; D013577:Syndrome; D014314:Trisomy