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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...

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Share to Chromosomes, Human, Pair 21
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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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