2026-05-22T06:21:46Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/136962025-03-10T13:42:59Zcom_20.500.12105_5571com_20.500.12105_2404com_20.500.12105_2403col_20.500.12105_5613

00925njm 22002777a 4500 dc López Grondona, Fermín author Rodriguez, Laura author Mansilla, E author Martinez-Fernandez, Maria Luisa author Martínez-Frías, María Luisa author 2004-10 Here we present two unrelated cases that came to our service for families that are looking for information on the diagnostic on malformation syndromes and infants with congenital defects. Both cases show as common signs psychomotor delay, microcephaly, corpus callosum agenesis and inespecific facial phenotype. We perform a high resolution G-bands karyotypes, and both of them showed a "de novo" deletion in the proximal region of a chromosome 14, with different break points but with a common region deleted. The karyotype of the first case was 46,XY, del(14)(q12;q21.1), and the karyotype of the second case 46,XX del(14)(q11.2;q13.1). We discussed the possible candidates genes that could be related with the phenotype and review the different reported cases. Boletín del ECEMC: Rev Dismor Epidemiol 2004; V (nº 3): 18-24 0210–3893 Boletín del ECEMC: Revista de Dismorfología y Epidemiología http://hdl.handle.net/20.500.12105/13696 Dismorfología Anomalías congénitas Epidemiología Deleción 14q proximal, presentación de dos casos y revisión de la literatura