18q− and 18q+ mosaicism in a mentally retarded boy
- 15 November 1994
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 53 (3) , 296-299
- https://doi.org/10.1002/ajmg.1320530317
Abstract
A mentally retarded boy was found to have an unusual chromosomal mosaicism [46,XY, del(18) (q22)/46,XY,iso psu dic(18)(q23)]. The clinical manifestations are compatible with the 18q− syndrome. The chromosome alteration was denned by high resolution banding and fluorescence in situ hybridization (FISH). A mechanism to explain the origin of the two cell lines is presented and discussed.Keywords
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