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Identifies recurrent congenital heart disease, microcephaly, and developmental delay in 6q22-qter duplication, highlighting a distinct clinical syndrome.
We report on a girl with duplication of 6q22.32 --> qter and microcephaly, frontal bossing, facial anomalies, and webbed neck. She has congenital heart disease, renal hypoplasia, and hearing loss along with severe developmental delay. Published reports of seven other patients are reviewed and compared. The most frequent anomalies include microcephaly, abnormal face, webbed neck, congenital heart disease, limb contractures, and developmental delay.
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Conrad et al. (1998) studied this question.
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