Cryptic duplication of 21q in an individual with a clinical diagnosis of Down syndrome.

doi:10.1034/j.1399-0004.2001.590609.x

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Article

Cryptic duplication of 21q in an individual with a clinical diagnosis of Down syndrome.

Clinical genetics - 1 Jun 2001

Forster-Gibson C J, Davies J, MacKenzie J J, Harrison K

Abstract excerpt

We describe an adult male who was diagnosed with Down syndrome (DS) at 9 months of age, but had repeatedly normal karyotypes until recent mid-resolution chromosome studies showed a possible duplication of 21q22.13 to 21q22.3. The abnormality was investigated using fluorescent in situ hybridization (FISH) studies. These showed hybridization of a whole chromosome paint probe (wcp21, Oncor Coatasome 21) to the...

Topics

Adult
Chromosomes, Human, Pair 21
Down Syndrome
Gene Duplication
Genotype
Humans
In Situ Hybridization, Fluorescence
Male
Phenotype

Source

Open in PubMed

Identifiers

PMID: 11453976
DOI: 10.1034/j.1399-0004.2001.590609.x

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