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oai:repisalud.isciii.es:20.500.12105/140162025-03-10T13:35:51Zcom_20.500.12105_5571com_20.500.12105_2404com_20.500.12105_2403col_20.500.12105_5710

00925njm 22002777a 4500 dc Mansilla, E author Rodríguez, Luis author Martinez-Fernandez, Maria Luisa author Rodríguez de Cía, J author García Vicent, C author Martínez-Frías, María Luisa author 2006-10 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. Boletín del ECEMC: Rev Dismor Epidemiol 2006; V (nº 5): 18-25 0210–3893 Boletín del ECEMC: Revista de Dismorfología y Epidemiología http://hdl.handle.net/20.500.12105/14016 Monosomía parcial 10p en un caso con fenotipo similar al síndrome de Ritscher-Schinzel