Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1→q24 in different offspring
- 1 January 1981
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 9 (2), 105-111
- https://doi.org/10.1002/ajmg.1320090204
Abstract
The use of elongated prophase and prometaphase chromosome preparations has allowed detection of an insertion of a small segment of 3q into 11q in a kindred with 4 balanced carriers and 8 unbalanced offspring. Those with partial 3q deletion have a true multiple congenital anomalies/mental retardation (MCA/MR) syndrome with an appearance suggestive of the Schwartz-Jampel syndrome.Keywords
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