title: [3q29 microduplication syndrome].
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 1.73 Mb. 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.
authors: Servicio de Pediatría, Hospital General de Elda, Alicante, España.
authors: F
authors: F
authors: Aleixandre Blanquer
authors: I
authors: I
authors: Manchón Trives
authors: M J
authors: MJ
authors: Forniés Arnau
authors: L A
authors: LA
authors: Alcaraz Mas
authors: N
authors: N
authors: Picó Alfonso
authors: F
authors: F
authors: Galán Sánchez
mesh_terms: D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D009139:Musculoskeletal Abnormalities / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome