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Article

[Improvement of genetic diagnostic strategy in velo-cardio-facial syndrome].

Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi - 1 Jan 2000

Pânzaru Monica, Rusu Cristina, Voloşciuc M, Braha Elena, Butnariu Lăcrămioara, Ivanov I, Grămescu Mihaela, Popescu Roxana, Caba Lavinia, Sireteanu Adriana, Macovei M, Covic M, Gorduza E V

Abstract excerpt

UNLABELLED: Velo-Cardio-Facial Syndrome (VCFS) is characterized by congenital heart defects (CHD), palatal abnormalities, facial dysmorphism, neonatal hypocalcemia, immune deficit, speech and learning disabilities. SVCF is caused by microdeletion 22q11.2. Microdeletion is detected by fluorescence in situ hybridization (FISH). The highly variable phenotype makes diagnosis and selection for FISH more difficult....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 22046783

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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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