Characteristics of two cases with dup(15)(q11.2-q12): one of maternal and one of paternal origin
Characteristics of two cases with dup(15)(q11.2-q12): one of maternal and one of paternal origin
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DOI：
10.1097/00125817-200003000-00003
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发表时间：
2000-03-01
影响因子：
8.8
通讯作者：
Babovic-Vuksanovic, D
中科院分区：
文献类型：
--
作者：
Mao, R;Jalal, SM;Babovic-Vuksanovic, D
目的：包括Prader-Willi/Angelman综合征关键区域在内的间质性重复的表型相关性尚未得到很好的建立。我们描述了两个这样的重复的情况下，其中之一是母亲的起源，另一个是父亲。方法：采用高分辨G显带、SNRP-N和D15 S10的荧光原位杂交（FISH）技术进行细胞遗传学分析。基于D15 S63（PW 71）基因座的亲本来源特异性DNA甲基化的Southern印迹分析用于检测甲基化和非甲基化片段。结果：FISH分析证实了重复序列。分子模式表明，在患者1和患者2的父源的重复母亲的起源。患者1（2岁）具有发育和言语延迟伴广泛性发育障碍或轻度自闭症、斜视和正常生长参数伴癫痫发作。患者2（16岁）有全面发育迟缓，语言智商为94，抑郁，肥胖，觅食行为，和严重的行为问题，包括自我伤害倾向。两例患者均无明显畸形特征或内脏器官异常。结论：这两个案例表明，一些患者与15q11.2q12重复可能有显着的异常，似乎有表型差异之间的母亲和父亲的重复传输。
Purpose: The phenotype correlations for interstitial duplications that include the Prader-Willi/Angelman syndrome critical region are not well established. We describe two such duplication cases, one of which was of maternal origin and the other was paternal. Methods: High resolution G-banding, fluorescence in situ hybridization (FISH) for SNRP-N and D15S10 were used for cytogenetic analysis. Southern blot analyses based on parent of origin specific DNA methylation at D15S63 (PW71) locus were utilized for detection of methylated and unmethylated fragments. Results: The duplication was established by the FISH analysis. The molecular pattern suggested a maternal origin of the duplication in patient 1 and a paternal origin in patient 2. Patient 1 (2 years old) had developmental and speech delays with pervasive developmental disorder or mild autism, strabismus, and normal growth parameters with seizures. Patient 2 (16 years old) had global developmental delay, verbal IQ of 94, depression, obesity, food-seeking behavior, and significant behavioral problems that included self-injurious tendencies. Neither patient had significant dysmorphic features or abnormalities of internal organs. Conclusion: The two cases suggest that some patients with 15q11.2q12 duplication may have significant anomalies, and there appear to be phenotypic differences between maternal and paternal transmission of the duplication.