Mansilla, ERodríguez, LuisMartinez-Fernandez, Maria LuisaRodríguez de Cía, JGarcía Vicent, CMartínez-Frías, María Luisa2022-04-182022-04-182006-10Boletín del ECEMC: Rev Dismor Epidemiol 2006; V (nº 5): 18-250210–3893http://hdl.handle.net/20.500.12105/14016Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCMonosomy 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.spaVoRhttp://creativecommons.org/licenses/by-nc-sa/4.0/Atribución-NoComercial-CompartirIgual 4.0 InternacionalV518-25Boletín del ECEMC: Revista de Dismorfología y Epidemiologíaopen access