Engelen J J, Loots W J, Albrechts J C, Schrander-Stumpel C T, Dirckx R, Smeets H J, Hamers A J, Geraedts J P
Department of Molecular Cell Biology and Genetics, University Maastricht, The Netherlands.
Genet Couns. 1999;10(2):123-32.
We report on a patient presenting with mental retardation and obesity and a proximal duplication of chromosome 15. The patient shared some clinical signs with Prader-Willi syndrome. With a region-specific paint, generated by microdissection, a duplication in region 15q11.2-q13 was shown to be present. Subsequently, FISH with probes localized to chromosome region 15q11.2-q12 and microsatellite analysis was used to characterize this chromosome aberration further and an insertion duplication within the region frequently deleted in Prader-Willi and Angelman syndrome was demonstrated.
我们报告了一名患有智力发育迟缓、肥胖症且15号染色体近端重复的患者。该患者与普拉德-威利综合征有一些共同的临床症状。通过显微切割产生的区域特异性探针，显示15q11.2-q13区域存在重复。随后，使用定位于染色体区域15q11.2-q12的探针进行荧光原位杂交（FISH）和微卫星分析，以进一步表征这种染色体畸变，并证实了在普拉德-威利综合征和安吉尔曼综合征中经常缺失的区域内存在插入重复。
