Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.

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Article

Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.

American journal of human genetics - 1 Jun 1995

Morrow B, Goldberg R, Carlson C, Das Gupta R, Sirotkin H, Collins J, Dunham I, O'Donnell H, Scambler P, Shprintzen R

Abstract excerpt

Velo-cardio-facial syndrome (VCFS) is a common genetic disorder among individuals with cleft palate and is associated with hemizygous deletions in human chromosome 22q11. Toward the molecular definition of the deletions, we constructed a physical map of 22q11 in the form of overlapping YACs. The...

Topics

Abnormalities, Multiple
Base Sequence
Chromosome Mapping
Chromosomes, Artificial, Yeast
Chromosomes, Human, Pair 22
DiGeorge Syndrome
Face
Female
Genetic Markers
Genotype
Heart Defects, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Molecular Sequence Data

Mouth Abnormalities

Polymorphism, Genetic

Sequence Deletion

Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 7762562
PMCID: PMC1801093

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7762562-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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