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Article

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.

American journal of human genetics - 1 Mar 1999

Funke B, Edelmann L, McCain N, Pandita R K, Ferreira J, Merscher S, Zohouri M, Cannizzaro L, Shanske A, Morrow B E

Abstract excerpt

Derivative 22 (der[22]) syndrome is a rare disorder associated with multiple congenital anomalies, including profound mental retardation, preauricular skin tags or pits, and conotruncal heart defects. It can occur in offspring of carriers of the constitutional t(11;22)(q23;q11) translocation, owing to a 3:1 meiotic malsegregation event resulting in partial trisomy of chromosomes 11 and 22. The trisomic region on...

Read the complete abstract on PubMed

Topics

Adolescent
Animals
Chromosome Aberrations
Chromosome Breakage
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 22

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

Cricetinae

DiGeorge Syndrome

Female

Gene Dosage

Genetic Markers

Genotype

Haplotypes

Humans

Hybrid Cells

In Situ Hybridization, Fluorescence

Infant

Infant, Newborn

Source

Open in PubMed Open full text

Identifiers

PMID: 10053009
DOI: 10.1086/302284
PMCID: PMC1377792

Genes

RANBP1
ZNF74

Provenance

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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Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.PMID 10053009Read ↗

The 22q11.2 deletion syndrome.Semantic proximity Read ↗

Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area22q11.2: Report of five families with a review of the literatureSemantic proximity Read ↗

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Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Cinical ApproachSemantic proximity Read ↗

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical ApproachSemantic proximity Read ↗

Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome.Semantic proximity Read ↗

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22q11.2 duplication syndrome: Two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromesSemantic proximity Read ↗

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A common molecular basis for rearrangement disorders on chromosome 22q11Semantic proximity Read ↗

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