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Article

Kousseff syndrome: a causally heterogeneous disorder.

American journal of medical genetics. Part A - 30 Jan 2004

Maclean K, Field M J, Colley A S, Mowat D R, Sparrow D B, Dunwoodie S L, Kirk E P E

Abstract excerpt

The existence of Kousseff syndrome as a distinct entity has been thrown into doubt by a recent study conducted on the family originally reported by Kousseff. In all cases where chromosome 22q11.2 FISH testing has been undertaken, including the original sibship, a chromosome 22q11.2-microdeletion has been identified. We report two cases of sacral myelomeningocele associated with a conotruncal cardiac anomaly or...

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Share to Abnormalities, Multiple
Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Fatal Outcome

Share to Genetic Heterogeneity

Share to Heart Defects, Congenital

Share to In Situ Hybridization, Fluorescence

Source

Identifiers

PMID: 14708106
DOI: 10.1002/ajmg.a.20418

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CITED2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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