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Article

Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion.

American journal of medical genetics. Part A - 1 May 2008

Fernández Luis, Lapunzina Pablo, Pajares Isidora López, Palomares María, Martínez Isabel, Fernández Blanca, Quero José, García-Guereta Luis, García-Alix Alfredo, Burgueros Margarita, Galán-Gómez Enrique, Carbonell-Pérez José María, Pérez-Granero Angeles, Torres-Juan Laura, Heine-Suñer Damià, Rosell Jordi, Delicado Alicia

Abstract excerpt

Screening for 22q11.2 deletions has not an easy approach due to the wide variability of their associated phenotype. Many clinical features overlap with those of other known syndromes and reported loci. Patients referred to exclude a 22q11.2 deletion are usually tested with a locus-specific FISH p...

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Share to Chromosome Deletion
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Source

Identifiers

PMID: 18384142
DOI: 10.1002/ajmg.a.32256

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18384142-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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