Familial pericentric inversion of chromosome 19, inv(19) (p13q13) with a note on genetic counseling of pericentric inversion carriers.
An inmate of a hospital for the mentally retarded was found during a cytogenetic screening programme to have karyotype 46,XY,inv(19)(p13q13)mat. Clinical, cytogenetic and family findings are presented and it is concluded that the chromosomes abnormality was probably not the cause of the patient's retardation. The problem of genetic counseling of inversion carriers is examined in some detail and estimates of risk are given.
D000293:Adolescent; D002869:Chromosome Aberrations; D007446:Chromosome Inversion; D002901:Chromosomes, Human, 13-15; D002903:Chromosomes, Human, 19-20; D005817:Genetic Counseling; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male