Síndrome de microduplicación 3q29
- Aleixandre Blanquer, F.
- Manchón Trives, Irene
- Forniés Arnau, M.J.
- Alcaraz Mas, Luis A.
- Galán Sánchez, F.
ISSN: 1695-4033, 1696-4608
Datum der Publikation: 2011
Ausgabe: 75
Nummer: 6
Seiten: 409-412
Art: Artikel
Andere Publikationen in: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP )
Zusammenfassung
Abstract 3q29 microduplication (MIM 611936) is rare syndrome characterized by moderate mental retardation, craniofacial dysmorphic features and musculoskeletal anomalies. The size of the minimal critical region is about 1.73Mb. It is flanked by repetitive sequences and it is similar in size to the reciprocal 3q29 microdeletion, suggesting a non-allelic homologous recombination event (NAHR) at flanking LCR sequences as its aetiological mechanism. We describe a new familial case with variable expressivity