TRISOMY-18 MOSAICISM IN A MILDLY RETARDED BOY WITH POSTNATAL OVERGROWTH

Citation
G. Plessis et al., TRISOMY-18 MOSAICISM IN A MILDLY RETARDED BOY WITH POSTNATAL OVERGROWTH, Annales de genetique, 40(4), 1997, pp. 235-237
Citations number
12
Journal title
ISSN journal
00033995
Volume
40
Issue
4
Year of publication
1997
Pages
235 - 237
Database
ISI
SICI code
0003-3995(1997)40:4<235:TMIAMR>2.0.ZU;2-3
Abstract
We report a 6-year-old mildly retarded boy with trisomy 18 in 44% of p eripheral lymphocytes. He had mild nonspecific dysmorphic features, mi crocephaly, micropenis with cryptorchidism and postnatal overgrowth, T risomy 18 mosaicism was confirmed by a fluorescent in situ hybridizati on study, Ten previous reports of trisomy 18 mosaicism with normal or subnormal intelligence have been described but only one case of trisom y 18 mosaicism with high stature has been reported.