Apparent CHARGE association and chromosome anomaly: Chance or contiguous gene syndrome

✍ Scribed by Clementi, Maurizio ;Tenconi, Romano ;Turolla, Licia ;Silvan, Carla ;Bortotto, Livio ;Artifoni, Lina

• Publisher: John Wiley and Sons
• Year: 1991
• Tongue: English
• Weight: 491 KB
• Volume: 41
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320410223

✦ Synopsis

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 patient 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.