PDF(Pubmed)
Abstract：
This paper presents a unique 12-year case analysis of a girl with Penta-X syndrome, a chromosomal abnormality characterized by five X chromosomes instead of the normal two in healthy women. Pentasomy of X is a genetic, but not a hereditary disease affecting only women. Our patient demonstrated delayed mental, speech, and motor development along with physical anomalies such as craniofacial deformities, and eye pathology and was diagnosed with pentasomy of the X chromosome at the age of 3 after a cytogenetic examination. She developed epileptic seizures at the age of nine. Magnetic resonance imaging(MRI) revealed leukoencephalopathy with ventriculomegaly. The peculiarity of this observation is that the polysomy 49, XXXXX detected in the patient is characterized by a typical phenotypic presentation combined with demyelinating leukoencephalopathy, which has not been a typical feature of the disorder.
摘要：
本文介绍了一个独特的12年案例分析，女孩患有Penta-X综合征，一种染色体异常，其特征是健康女性的五个X染色体，而不是正常的两个。X的五体性是一种遗传，但不是只影响女性的遗传性疾病.我们的病人表现出精神错乱，演讲,和运动发育以及颅面畸形等身体异常，和眼部病理，经细胞遗传学检查，3岁时被诊断为X染色体五体性。她九岁时出现癫痫发作。磁共振成像（MRI）显示脑白质病伴有脑室增宽。这种观察的特点是，在患者中检测到的多体49，XXXXX的特征是典型的表型表现与脱髓鞘性白质脑病相结合，这不是该疾病的典型特征。
