[两名非嵌合型和嵌合型X和Y染色体多体患者的神经学方面]

[Neurological aspects of two patients with non-mosaic and mosaic polysomy of the X and Y chromosomes].

作者信息

Jakubowski L, Sabatowska M, Filipiak-Miastkowska I, Nadratowski P, Rutkowska A, Nowakowska D, Kałuzewski B

机构信息

Zakładu Genetyki Medycznej, Instytutu Endokrynologii AM w Lodzi.

出版信息

Neurol Neurochir Pol. 1999 Jan-Feb;33(1):169-75.

PMID:10399734

Abstract

Clinical features were compared of a patient with the 48,XXYY karyotype and a case of 47,XXY/48,XXYY mosaicism. In the former patient tremor of the upper extremities of unclear aetiology was present. In both cases epilepsy was suspected. Similarly as in other cases of 48,XXYY karyotype the first patient had skeletal anomalies, abnormalities of dermatoglyphics and personality changes. These features are rarely found in Klinefelter syndrome. The differences in relation to the syndrome were less evident in the case of mosaicism 47,XXY/48,XXYY.

摘要

对一名48,XXYY核型患者和一例47,XXY/48,XXYY嵌合体患者的临床特征进行了比较。在前一名患者中，存在病因不明的上肢震颤。在这两个病例中均怀疑有癫痫。与其他48,XXYY核型病例一样，第一名患者有骨骼异常、皮纹异常和人格改变。这些特征在克兰费尔特综合征中很少见。在47,XXY/48,XXYY嵌合体病例中，与该综合征相关的差异不太明显。