Monosomía parcial 10p en un caso con fenotipo similar al síndrome de Ritscher-Schinzel

Abstract

Monosomy 10p is a rare chromosomal anomaly having quite variable clinical expression, showing in some patients the DiGeorge anomaly. Here we report a malformed newborn, whose high resolution G-band karyotype showed an abnormal short arm of chromosome 10 (10p). Fluorescence in situ hybridization (FISH) analysis with the subtelomeric regions probes for 10p/10q showed both signals at normal position, what helped to interpreted the anomaly as an interstitial 10p deletion. Paternal chromosomes were normal. Thus the karyotype was 46,XY,del(10p)( p11.23;p15.1).ish tel(10p)x2 "de novo". The clinical features of this patient are a mixture of some anomalies clearly related to the 10p deletion, together with other that are typical of the Ritscher-Schinzel syndrome (SR-S). We evaluate the possibility of a new chromosomal location of the SR-S.