dc.contributor.author | Mansilla, E | |
dc.contributor.author | Rodríguez, Luis | |
dc.contributor.author | Martinez-Fernandez, Maria Luisa | |
dc.contributor.author | Rodríguez de Cía, J | |
dc.contributor.author | García Vicent, C | |
dc.contributor.author | Martínez-Frías, María Luisa | |
dc.date.accessioned | 2022-04-18T11:24:34Z | |
dc.date.available | 2022-04-18T11:24:34Z | |
dc.date.issued | 2006-10 | |
dc.identifier.citation | Boletín del ECEMC: Rev Dismor Epidemiol 2006; V (nº 5): 18-25 | es_ES |
dc.identifier.issn | 0210–3893 | es_ES |
dc.identifier.uri | http://hdl.handle.net/20.500.12105/14016 | |
dc.description | Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMC | es_ES |
dc.description.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. | es_ES |
dc.language.iso | spa | es_ES |
dc.publisher | Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER) | es_ES |
dc.type.hasVersion | VoR | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-sa/4.0/ | * |
dc.title | Monosomía parcial 10p en un caso con fenotipo similar al síndrome de Ritscher-Schinzel | es_ES |
dc.title.alternative | Partial monosomy 10p in a case with a phenotype resembling Ritscher-Schinzel syndrome | es_ES |
dc.type | journal article | es_ES |
dc.rights.license | Atribución-NoComercial-CompartirIgual 4.0 Internacional | * |
dc.format.volume | V | es_ES |
dc.format.number | 5 | es_ES |
dc.format.page | 18-25 | es_ES |
dc.description.peerreviewed | No | es_ES |
dc.identifier.journal | Boletín del ECEMC: Revista de Dismorfología y Epidemiología | es_ES |
dc.repisalud.centro | ISCIII | es_ES |
dc.repisalud.institucion | ISCIII | es_ES |
dc.rights.accessRights | open access | es_ES |