Microdeleción 15q11.2 (BP1-BP2)Un nuevo síndrome con expresividad variable

  1. Sempere Pérez, Ángela
  2. Manchón Trives, Irene
  3. Palazón Azorín, Inmaculada
  4. Alcaraz Mas, Luis A.
  5. Pérez Lledó, E.
  6. Galán Sánchez, F.
Journal:
Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP )

ISSN: 1695-4033,  1696-4608

Year of publication: 2011

Volume: 75

Issue: 1

Pages: 58-62

Type: Article

DOI: 10.1016/J.ANPEDI.2011.01.033 DIALNET GOOGLE SCHOLAR

More publications in: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP )

Abstract

The case of a boy with psychomotor retardation and dysmorphic features is presented. He has a 1.5 Mb 15q11.2 microdeletion of paternal origin diagnosed by aCGH. The deletion is located between breakpoints BP1 and BP2 of the Prader-Willi/Angelman syndromes critical region. Clinical features in our patient fit well with those described in ten cases of pure BP1-BP2 deletion published to date.

Data source: Dialnet