<i>De novo</i>duplication 3q in an infant with a vascular ring and features overlapping Cornelia de Lange phenotype

• 作者: Daniela Iacoboni M. Myrtha Gregoire-Bottex Michael Netzloff Nermin Kady Sainan Wei
• 来源期刊: 临床医学病理报告(英文)
• 学科: 医学
• 关键词: Cornelia DE Lange 3q DUPLICATION TRISOMY 3q Pure 3q DUPLICATION
• 年，卷（期）: 2013,（1）
• 页码范围: 48-52
• 页数: 5页
• 分类号: R73

摘要

Partial duplication of chromosome 3q is a recognizable syndrome with characteristic facial features, microcephaly, digital anomalies, genitourinary and cardiac defects as well as growth retardation and developmental delays. While there is clinical overlap with the unrelated Cornelia de Lange syndrome (CDLS), there are distinguishing features and molecular etiologies. Most cases of 3q duplication appear to be the result of an unbalanced translocation or inversion and therefore accompanied by additional cytogenetic anomalies. Consequently, pure duplications of 3q are very rare;we are aware of only 12 such cases that have been reported previously. Here, we present a new case of pure, partial 3q duplication in a 3-month-old female who displayed a number of clinical signs consistent with previously reported phenotypes and the additional novel finding of a vascular ring.