18q- and 18q+ mosaicism in a mentally retarded boy.
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.
Ausems
M G
MG
Clinical Genetics Center Utrecht, The Netherlands.
Bhola
S L
SL
Post-Blok
C A
CA
Hennekam
R C
RC
de France
H F
HF
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18; D004392:Dwarfism / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012141:Respiratory Tract Infections / Q000235:genetics; D012854:Sister Chromatid Exchange