在3号染色体的反向重复中检测到一个伴随的远端缺失。对于这种重复/缺失的起源是否存在一个整体机制？
Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies?
作者信息
Jenderny J, Poetsch M, Hoeltzenbein M, Friedrich U, Jauch A
机构信息
Department of Human Genetics, University of Kiel, Germany.
出版信息
Eur J Hum Genet. 1998 Sep-Oct;6(5):439-44. doi: 10.1038/sj.ejhg.5200217.
We describe the first inverted duplication of the p21.3p26 region of chromosome 3 in a child with phenotypic features of the trisomy 3p syndrome. This uncommon type of aberration was verified by multicolour fluorescence in situ hybridisation (FISH) using yeast artificial chromosome (YAC) clones from chromosome 3 (CEPH library). With a newly constructed YAC clone from the 3p26 region an unexpected subtelomeric deletion was diagnosed in the aberrant chromosome 3. Using the primed in situ labelling (PRINS) method, telomeres were found to be present on the recombinant chromosome 3. The repeated appearance of concomitant distal deletions in inverted duplications suggests that an overall mechanism exists for the origin of such duplications/deficiencies.
我们描述了一名患有3p三体综合征表型特征的儿童中首次出现的3号染色体p21.3p26区域的反向重复。这种不常见的畸变类型通过使用来自3号染色体（CEPH文库）的酵母人工染色体（YAC）克隆进行多色荧光原位杂交（FISH）得以验证。利用一个新构建的来自3p26区域的YAC克隆，在异常的3号染色体中诊断出意外的亚端粒缺失。使用引物原位标记（PRINS）方法，在重组的3号染色体上发现了端粒。反向重复中伴随的远端缺失的反复出现表明，存在一种导致此类重复/缺失产生的总体机制。
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