Distal 2q duplication: Report of two familial cases and an attempt to define a syndrome
- 1 January 1979
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 4 (1) , 5-16
- https://doi.org/10.1002/ajmg.1320040103
Abstract
Two cases of partial trisomy 2q are described, both resulting from a balanced translocation in one of the parents. In one case the chromosomes 2 and 11 were involved [paternal karyotype: 46,XY,t(2;11)(q33;q23)]; in the second case, chromosomes 2 and 8 [paternal karyotype: 46,XY, t(2;8(q32;p23)]. When the two patients were compared to the few cases reported in the literature, it was concluded that the associated clinical syndrome is characterized by severe psychomotor retardation and relatively mild abnormalities involving skull and facies.Keywords
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