1.
Am J Med Genet
; 53(3): 296-9, 1994 Nov 15.
Article
in English
| MEDLINE
| ID: mdl-7856666
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.