Article
Paracentric inversion in the short arm of chromosome 1. Report of a family and review of the literature.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2003
Cogulu O, Ozkinay F, Gunduz C, Cankaya T, Ozkinay C
Abstract excerpt
In general, carriers of paracentric inversions are phenotypically normal, although individual reports describe like occurrence of infertility, miscarriages and mental retardation in inversion carriers. We present a family with paracentric inversion of 1p [karyotype: 46,XY/XY, inv(1)(p13.2p36.2)] in 7 of the 12 investigated family members. The index patient, a four year-old boy was referred for motor and mental...
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