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?

被引：27

作者：

Jenderny, J

Poetsch, M

Hoeltzenbein, M

Friedrich, U

Jauch, A

机构：

[1] Univ Kiel, Dept Human Genet, D-24098 Kiel, Germany

[2] Aarhus Univ, Inst Human Genet, DK-8000 Aarhus, Denmark

[3] Univ Heidelberg, Inst Human Genet, D-6900 Heidelberg, Germany

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 1998年 / 6卷 / 05期

关键词：

inverted duplication; deletion; chromosome; 3; fluorescence in situ hybridisation; YAC clones;

D O I：

10.1038/sj.ejhg.5200217

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：439 / 444

页数：6

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