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18q- and 18q+ mosaicism in a mentally retarded boy.

Ausems, M G; Bhola, S L; Post-Blok, C A; Hennekam, R C; de France, H F.

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.

Subject(s)

Chromosome Aberrations/genetics , Chromosomes, Human, Pair 18 , Intellectual Disability/genetics , Mosaicism , Abnormalities, Multiple/genetics , Child, Preschool , Chromosome Banding , Chromosome Deletion , Chromosome Disorders , Dwarfism/genetics , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Male , Respiratory Tract Infections/genetics , Sister Chromatid Exchange

ABSTRACT

Subject(s)

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