Cytogenetic studies in Wiskott-Aldrich syndrome: identification of a case with a 6p chromosome abnormality.
Cytogenetic studies in Wiskott-Aldrich syndrome: identification of a case with a 6p chromosome abnormality.
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Wiskott-Aldrich 综合征的细胞遗传学研究：6p 染色体异常病例的鉴定。
DOI：
10.1002/ajmg.1320230305
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发表时间：
1986
期刊：
影响因子：
--
通讯作者：
Filipovich,AH
中科院分区：
文献类型：
--
作者：
Johnson,MP;Filipovich,AH
Lymphocytes from patients with Wiskott‐Aldrich syndrome (WAS) were studied (1) with prometaphase G banding to search for minor chromosome anomalies and (2) in mutagen stress assays to assess the extent of chromosome breakage under these conditions. One patient, a sporadic case of WAS, was found to have a stable inversion of a large segment of one chromosome 6 that involved the region encoding the major histocompatibility complex (MHC). The anomaly was not present in the patient's parents, nor in three other unrelated patients with WAS, all of whom demonstrated X‐linked inheritance (based on family history). None of the four patients showed an excessive number of breaks or radial exchange figures following exposure to mitomycin C or diepoxybutane. Thus chromosome fragility in WAS was not confirmed by these studies. However, the incidental finding of 6p inversion in a sporadic case of WAS suggests that genetic rearrangement involving the MHC can result in clinical immunodeficiency mimicking WAS.
