2026-07-22T09:51:02Zhttps://repisalud.isciii.es/rest/oai/requestoai: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
Repisalud
author
López Grondona, Fermín
author
Rodriguez, Laura
author
Mansilla, E
author
Martinez-Fernandez, Maria Luisa
author
Martínez-Frías, María Luisa
2022-02-22T11:27:24Z
2022-02-22T11:27:24Z
2004-10
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
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.
spa
Dismorfología
Anomalías congénitas
Epidemiología
Deleción 14q proximal, presentación de dos casos y revisión de la literatura
research article
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https://repisalud.isciii.es/bitstreams/e9d294f6-d206-4f8d-8f8b-9ff86921217b/download
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Deleción14qProximal.Presentación_2004.pdf
URL
https://repisalud.isciii.es/bitstreams/99a3593c-9781-457e-86f1-3ae705ae8e3a/download
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text/plain
Deleción14qProximal.Presentación_2004.pdf.txt