Balanced complex chromosomal rearrangements with more than four breakpoints: Report of a new case
- 1 September 1991
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 40 (3) , 370-373
- https://doi.org/10.1002/ajmg.1320400325
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.Keywords
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