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Article

Prenatal diagnosis of the 22q11.2 deletion syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Driscoll D A

Abstract excerpt

The development of fluorescence in situ hybridization (FISH)- and polymerase chain reaction (PCR)-based assays for the detection of deletions of chromosome 22q11.2 has enabled the medical community to offer couples at risk prenatal diagnostic testing. Current indications for testing include a previous child with a 22q11.2 deletion or DiGeorge/velocardiofacial syndrome, an affected parent with a 22q11.2 deletion,...

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Identifiers

PMID: 11339370
DOI: 10.1097/00125817-200101000-00004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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