Trisomy 6q25→6qter in two sisters resulting from maternal 6;11 translocation
- 1 January 1980
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 5 (2), 171-178
- https://doi.org/10.1002/ajmg.1320050211
Abstract
Chromosome banding was used to define a partial duplication of the long arm of chromosome 6 (6q25 leads to 6qter) in two profoundly affected sisters and to identify their phenotypically normal mother and sister as balanced translocation carriers whose karyotypes were interpreted as 46,XX,t(6;11) (q25;q25). Prominent clinical features included profound mental retardation, hypertelorism, micrognathia, down-turned mouth, dental anomalies, clubfeet, webbed neck, late progressive scoliosis, flexion contractures, and low total finger ridge count. By comparison with published reports, it has been possible to establish a trisomy 6q25 leads to 6qter syndrome.Keywords
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