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18q- and 18q+ mosaicism in a mentally retarded boy
M G Ausems1, S L Bhola, C A Post-Blok
1Clinical Genetics Center Utrecht, The Netherlands.
American Journal of Medical Genetics
|November 15, 1994
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 defined 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.