Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Kousseff syndrome caused by deletion of chromosome 22q11-13.

American journal of medical genetics - 1 Nov 2002

Forrester Shawnia, Kovach Margaret J, Smith Randell E, Rimer Lisa, Wesson Melissa, Kimonis Virginia E

Abstract excerpt

Kousseff syndrome was originally described by Boris Kousseff in 1984: Pediatrics 74:395-398 in three siblings whose main features were conotruncal heart defects, neural tube defects, and dysmorphic features. The proband is a white male who has spina bifida, shunted hydrocephalus, cleft palate, short stature, cognitive impairment, and the typical craniofacial features of velo-cardio-facial syndrome (VCFS),...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 22

Share to Cognition Disorders

Share to Fatal Outcome

Share to Growth Disorders

Share to Heart Defects, Congenital

Share to Neural Tube Defects

Source

Identifiers

PMID: 12376934
DOI: 10.1002/ajmg.10625

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Kousseff syndrome caused by deletion of chromosome 22q11-13.PMID 12376934Read ↗

Kousseff syndrome: a causally heterogeneous disorder.Semantic proximity Read ↗

Neural tube defects and deletions of 22q11Semantic proximity Read ↗

Chromosome 22q11 deletions in patients with conotruncal heart defects.Semantic proximity Read ↗

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

Neural tube defects and atypical deletion on 22q11.2.Semantic proximity Read ↗

Clinical and genetic characteristics of a case of Koolen-De Vries syndrome caused by KANSL1 gene mutation and literature review: A case report.Semantic proximity Read ↗

Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects.Semantic proximity Read ↗

Fetal phenotype associated with the 22q11 deletion.Semantic proximity Read ↗

[Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum].Semantic proximity Read ↗

Early fetal presentation of Koolen-de Vries: Case report with literature review.Semantic proximity Read ↗

Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five casesSemantic proximity Read ↗

Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.