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Characterization of a balanced complex chromosomal rearrangement carrier ascertained through a fetus with dup15q26.3 and del5p15.33: case report

✍ Scribed by Lledo, Belen; Ortiz, Jose Antonio; Morales, Ruth; Manchon, Irene; Galan, Francisco; Bernabeu, Andrea; Bernabeu, Rafael

Book ID: 125529616
Publisher: Informa plc
Year: 2013
Tongue: English
Weight: 203 KB
Volume: 16
Category: Article
ISSN: 1464-7273
DOI: 10.3109/14647273.2013.814810

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## Abstract Congenital complex chromosomal rearrangement (CCR) compatible with life are rare in man. We report on a new case of apparently balanced CCR in a 30‐month‐old boy with mental retardation and minor anomalies. This CCR consists in a 3‐way reciprocal translocation (2;3;16) and an insertion