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

doi:10.1002/ajmg.1320410223

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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...

Topics

Abnormalities, Multiple
Child, Preschool
Choanal Atresia
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 22
Chromosomes, Human, Pair 3
Dwarfism
Female

Heart Defects, Congenital

Humans

Immunologic Deficiency Syndromes

Infant

Intellectual Disability

Leukocyte Count

Male

Phenotype

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