Since Rethore and his collegues first described the partial trisomy 9p syndrome in 1970, approximately 100 patients with trisomy of the short arm of chromosome 9 have been described. Trisomy 9 has been reported as either partial or complete.
Complete
trisomy is rare and imcompatible with a long life. The characteristic features of the partial trisomy 9p syndrome is the clearly recognizable faces, which includes small deeply set eyes, a short bulbous nose, down turned corners of the mouth(fish
shaped
mouth), large flat ears turned out-ward, cleft lips and palate. The patients all show mental retardation and dysmorphism of hands with hypoplasia of phalanges and clinodactyly. We report a 3 years 4 months old boy, brought to neurologic
department
of
Yonsei university hospital because of delayed development and absence convulsion with clinical features of deep set eyes, cup shaped ears, cleft lips and palate, clinodactyly, and single crease of 5th finger. The chromosome study comfirmed
Trisomy
9p
syndrome with mothers karyotype 46 XX, rcp (15:9) (q13:q12) and the patients karyotype 9p Trisomy 46 XY. -15 + t(19:15) (13p:15p).
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