Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
4142158 | Anales de Pediatría | 2011 | 4 Pages |
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 1.73Â 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.
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Authors
F. Aleixandre Blanquer, I. Manchón Trives, M.J. Forniés Arnau, L.A. Alcaraz Mas, N. Picó Alfonso, F. Galán Sánchez,