Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome.
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 and of the frequent coexistence of CHARGE association and DiGeorge anomaly raise the possibility of a contiguous gene syndrome in at least some CHARGE cases.
Clementi
M
M
Dipartimento di Pediatria, Università di Padova, Italy.
Tenconi
R
R
Turolla
L
L
Silvan
C
C
Bortotto
L
L
Artifoni
L
L
D000015:Abnormalities, Multiple / Q000145:classification / Q000235:genetics*; D002675:Child, Preschool; D002754:Choanal Atresia / Q000235:genetics*; D002869:Chromosome Aberrations / Q000145:classification / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002889:Chromosomes, Human, Pair 2 / Q000648:ultrastructure; D002892:Chromosomes, Human, Pair 22 / Q000648:ultrastructure; D002893:Chromosomes, Human, Pair 3 / Q000648:ultrastructure; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007958:Leukocyte Count; D008297:Male; D010641:Phenotype; D013577:Syndrome; D016176:T-Lymphocyte Subsets; D014178:Translocation, Genetic