FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients.
FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients.
复制标题
两名 Prader-Willi 患者的小型多余标记染色体的 FISH 表征。
DOI：
--
复制
发表时间：
1997
期刊：
影响因子：
--
通讯作者：
L. Larizza
中科院分区：
文献类型：
--
作者：
D. Bettio;N. Rizzi;D. Giardino;F. Gurrieri;G. Silvestri;G. Grugni;L. Larizza
在两名普瑞德-威利综合征 (PWS) 患者中观察到一条小的多余染色体。 PWS 的临床诊断通过确定一例 15q11-13 区域缺失和另一例同一区域的单亲二体性 (UPD) 得到证实。标记物对于dystamycinA/DAPI条带呈阴性，不含NOR阳性卫星，并且具有与非常小的环状染色体一致的外观。使用“全人类着丝粒”探针进行的荧光原位杂交（FISH）分析表明两个标记中都存在着丝粒序列。与染色体特异性文库的染色体原位抑制杂交证明，缺失患者和UPD患者中的小标记分别源自15号染色体和X号染色体。据我们所知，这些是唯一报告具有 FISH 表征的除 inv dup(15) 之外的多余标记染色体的 PWS 患者。
A small supernumerary chromosome was observed in two Prader-Willi syndrome (PWS) patients. The clinical diagnosis of PWS was confirmed by the ascertainment of the deletion of region 15q11-13 in one case and uniparental disomy (UPD) of the same region in the other. The markers were negative for dystamycinA/DAPI banding, did not contain NOR-positive satellites, and had an appearance consistent with a very small ring chromosome. Fluorescent in situ hybridization (FISH) analysis with the "all human centromere" probe indicated the presence of centromeric sequences in both markers. Chromosomal in situ suppression hybridization with chromosome specific libraries demonstrated that the small markers in the deleted and UPD patient originated from chromosome 15 and X, respectively. To the best of our knowledge these are the only PWS patients reported with a supernumerary marker chromosome other than inv dup(15) characterized by FISH.
小标记 X 染色体缺乏 X 失活中心：对核型/表型相关性的影响。
影响因子：
9.8
作者：
Wolff,DJ;Brown,CJ;Schwartz,S;Duncan,AM;Surti,U;Willard,HF
通讯作者：
Willard,HF