Partial trisomy 6p due to maternal t(1;6) translocation
- 28 June 1996
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 49 (6) , 316-317
- https://doi.org/10.1111/j.1399-0004.1996.tb03797.x
Abstract
Partial trisomy 6p with duplications ranging from 6p21 to 6p25 is emerging as an established syndrome. A case of duplication of segment p22-p25 of the short arm of chromosome 6 as the result of a maternal t (1;6)(q44;p22.2) translocation in a mentally retarded girl with congenital anomalies is reported here. The associated phenotypic anomalies are compared with other reported cases of duplication 6p involving adjacent regions.Keywords
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- Partial 6p trisomy associated with infantile autismClinical Genetics, 1988
- Partial trisomy 6p and partial trisomy 22 resulting from 3:1 meiotic disjunction of maternal (6p;22q) translocation.Journal of Medical Genetics, 1986