DUPLICATION 6Q22-]QTER - DEFINITION OF THE PHENOTYPE

We report on a girl with duplication of 6q22.32 --> qter and microceph aly, frontal bossing, facial anomalies, and webbed neck. She has conge nital heart disease, renal hypoplasia, and hearing loss along with sev ere developmental delay. Published reports of seven other patients are reviewed and compared. The most frequent anomalies include microcepha ly, abnormal face, webbed neck, congenital heart disease, limb contrac tures, and developmental delay. Am. J, Med, Genet. 78:123-126, 1998, ( C) 1998 Wiley-Liss, Inc.