Simultaneous Partial Monosomy 10p and Familial Heteromorphism for Chromosome

Authors: Mehmet ELBiSTAN, Nurten KARA, Ayhan Gazi KALAYCI, Şükrü KÜÇÜKÖDÜK, Hasan BAĞCI

Abstract: We report a case of monosomy for the distal region of the short arm of chromosome 10, del10(qterİp11.2:) associated with chromosome 9 heteromorphism that includes both localization (perincentric inversion of chromose 9 (p11q13)) and size variant, 9qht+. We reviewed the literature for previously reported cases of partial monosomy for 10p and pericentric inversion of chromose 9, but to our knowledge, our case seems to be the first that included these chromose anomalies all together. Clinically, our patient showed features typical of partial monosomy for 10p.

Keywords: Partial monosomy 10p, inversion and heteromorphism