Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome.

doi:10.1002/ajmg.1320410223

Back to search

Article

Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome.

American journal of medical genetics - 1 Nov 1991

Clementi M, Tenconi R, Turolla L, Silvan C, Bortotto L, Artifoni L

Abstract excerpt

This report concerns 2 unrelated patients with apparent CHARGE association and a chromosome abnormality, resulting from different unbalanced familial translocations involving chromosomes 2 and 18 in one family, and chromosomes 3 and 22 in the other. Although the identification of two different chromosome abnormalities might be due to chance, the observation of a long arm deletion of chromosome 22 in patients 2...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Disorders

Share to Chromosomes, Human, Pair 3

Share to Infant

Share to Intellectual Disability

Share to Phenotype

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Click a neighbor to travelStep 1 · 8 closest

Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome.PMID 1785643Read

22q and two: 22q11.2 deletion syndrome and coexisting conditionsSemantic proximity Read

["CHARGE" association].Semantic proximity Read

Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.Semantic proximity Read

CHARGE syndrome: Report of 47 cases and reviewSemantic proximity Read

Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome.Semantic proximity Read

Clinical utility gene card for: CHARGE syndrome - update 2015.Semantic proximity Read

Exclusion of PITX2 mutations as a major cause of CHARGE association.Semantic proximity Read

Increased paternal age in CHARGE associationSemantic proximity Read