D. Concolino et al., BRIEF CLINICAL REPORT - CENTRIC FISSION OF CHROMOSOME-9 IN A BOY WITHTRISOMY 9P, American journal of medical genetics, 79(1), 1998, pp. 35-37
A centric fission of chromosome 9 was found in a boy with trisomy 9p r
esulting from a de novo del (9p) and a 9p isochromosome. The patient p
resented with clinical findings similar to those described in previous
ly reported cases of trisomy 9p. The cytogenetic evaluation and the mo
lecular analysis using fluorescence in situ hybridization (FISH) with
specific alphoid probe for chromosome 9 showed a karyotype of 47,XY,+d
el(9) (q10),+i(9p). We suggest that the mechanism leading to this situ
ation is unusual. (C) 1998 Wiley-Liss, Inc.