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Three unrelated cases of paracentric inversions of 1p in individuals with abnormal phenotypes.

作者信息

Estop A M, Bansal V, Lin A, Levinson F, Karlin S M, Surti U, Wenger S L, Steele M W

机构信息

Department of Medical Genetics, Western Pennsylvania Hospital 15224.

出版信息

Am J Med Genet. 1994 Feb 15;49(4):410-3. doi: 10.1002/ajmg.1320490412.

Abstract

Paracentric inversions, involving a rearrangement within one chromosome arm, are rare. Although carriers of balanced paracentric inversions should theoretically not be at risk for abnormal offspring, such cases have been reported. We report on 2 unrelated cases of inherited paracentric inversions of 1p with breakpoints at p32 and p36.1 and p32.3 and p36.22 in individuals with abnormal phenotypes. Another case of 2 abnormal monozygotic twins with a de novo paracentric inversion of 1p with breakpoints at p22 and p34 is presented as well.

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