[关于一例与染色体异常相关的丹迪-沃克综合征病例]

[Apropos of a case of Dandy-Walker syndrome associated with chromosome abnormalities].

作者信息

Patacchiola F, Carta G, Iovenitti P, Bonitatibus A, Mascaretti G, Caserta D, Moscarini M

机构信息

Dipartimento di Medicina Sperimentale, Università degli Studi, L'Aquila.

出版信息

Minerva Ginecol. 1999 Mar;51(3):95-8.

PMID:10352541

Abstract

A case of Dandy-Walker syndrome associated with chromosome abnormalities (46,XX,-21, +der(13)t(13;21)(q22;q11), diagnosed during pregnancy is reported. This is a pathology characterized by malformations of the central nervous system, mainly of the cerebellum. Due to several aspects and different prognosis between classic Dandy-Walker and its variants, many clinical and therapeutic problems may raise.

摘要

报告了一例孕期诊断出的与染色体异常（46,XX,-21,+der(13)t(13;21)(q22;q11)）相关的丹迪-沃克综合征病例。这是一种以中枢神经系统畸形，主要是小脑畸形为特征的病理情况。由于经典丹迪-沃克综合征及其变异型之间存在多个方面及不同的预后情况，可能会引发许多临床和治疗问题。