Familial pericentric inversion of chromosome 19, inv(19) (p13q13) with a note on genetic counseling of pericentric inversion carriers
- 23 April 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 10 (1), 54-59
- https://doi.org/10.1111/j.1399-0004.1976.tb00009.x
Abstract
An inmate of a hospital for the mentally retarded during a cytogenetic screening program had a karotype 46,XY,inv(19)(p13q13)mat. Clinical, cytogenetic and family findings are presented and it is concluded that the chromosome abnormality was probably not the cause of the patient''s retardation. The problem of genetic counselling of inversion carriers is examined in some detail and estimates of risk are given.Keywords
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