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Updated: May 28, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
[3q29 microduplication syndrome]
F Aleixandre Blanquer1, I Manchón Trives, M J Forniés Arnau
1Servicio de Pediatría, Hospital General de Elda, Alicante, España.
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.
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