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Balanced complex chromosomal rearrangements with more than four breakpoints: Report of a new case

✍ Scribed by Till, Marianne ;Devillard, Françoise ;Crost, Pierre ;Bachy, Monique ;Prieur, Fabienne ;Berthéas, Marie-Françoise

Publisher: John Wiley and Sons
Year: 1991
Tongue: English
Weight: 346 KB
Volume: 40
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320400325

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✦ Synopsis

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 (6;7), as it was analyzed by different banding and high resolution techniques.

It involves 6 breakpoints: 2q11, 13q12, 16p11, 6p21.3, 7q21.3 and 7q35.

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