Dominant paternal transmission of Cornelia de Lange syndrome: A new case and review of 25 previously reported familial recurrences
Dominant paternal transmission of Cornelia de Lange syndrome: A new case and review of 25 previously reported familial recurrences
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DOI：
10.1002/ajmg.10066
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发表时间：
2001-12-15
期刊：
影响因子：
--
通讯作者：
Krantz, ID
中科院分区：
文献类型：
--
作者：
Russell, KL;Ming, JE;Krantz, ID
科尔内利亚德兰格综合征（CdLS）是一种常染色体显性遗传的多系统疾病，其特征是躯体和认知发育迟缓、特征性面部特征、肢体异常、听力损失和其他器官系统受累。绝大多数病例（99%）是散发性的，有罕见的家族性病例报告。大多数患有CdLS的个体由于疾病的严重性而不能繁殖。产妇传播已得到充分的记录，还有几例多重感染的儿童由显然未受影响的父母所生。父方传播很少被报道。这里报告了一个病例，一位具有典型的CDLS特征的父亲和一个受到类似影响的女儿。综述了CdLS的家族性病例报道。(C)2001 Wiley-Liss，Inc.
The Cornelia de Lange syndrome (CdLS) is an autosomal dominant multisystem disorder characterized by somatic and cognitive retardation, characteristic facial features, limb abnormalities, hearing loss, and other organ system involvement. The vast majority of cases (99%) are sporadic, with rare familial occurrences having been reported. Most individuals with CdLS do not reproduce as a result of the severity of the disorder. Maternal transmission has been well documented, as have several cases of multiple-affected children being born to apparently unaffected parents. Paternal transmission has rarely been reported. A case is reported here of a father with classic features of CdLS with a similarly affected daughter. A review of the reported familial cases of CdLS is summarized. (C) 2001 Wiley-Liss, Inc.