熟悉的del3p综合征：预后的不确定性。一例病例报告。
Familiar del3p syndrome: The uncertainty of the prognosis. A case report.
作者信息
Martins Márcia, Arantes Regina, Botelho Pedro, Souto Marta, Moutinho Osvaldo, Pinto Leite Rosário
机构信息
Genetic Consultation Centro Hospitalar de Trás-os-Montes e Alto Douro Vila Real Portugal.
Genetics Laboratory Centro Hospitalar de Trás-os-Montes e Alto Douro Vila Real Portugal.
出版信息
Clin Case Rep. 2021 Mar 9;9(4):2365-2368. doi: 10.1002/ccr3.4036. eCollection 2021 Apr.
Abstract
The 3p deletion syndrome is an unusual condition. The few cases described are mainly de novo. We described a familial case detected in a prenatal diagnosis. Three members of the family had the 3p26.3-p26.1 deletion; however, only the son presented clinical features.
摘要
3p缺失综合征是一种罕见病症。所描述的少数病例主要是新发的。我们描述了一例在产前诊断中发现的家族性病例。该家族中有三名成员存在3p26.3 - p26.1缺失；然而，只有儿子表现出临床特征。
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