title: Paracentric inversion in the short arm of chromosome 1. Report of a family and review of the literature.
abstract: 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 retardation. The possible relationship between the paracentric inversion and the MR/MCA syndrome in the index patient of this family is briefly discussed.
authors.affiliation: Department of Pediatrics, Ege University Faculty of Medicine, 35100, Izmir, Turkey. cogulu@med.ege.edu.tr
authors.forename: O
authors.initials: O
authors.lastname: Cogulu
authors.forename: F
authors.initials: F
authors.lastname: Ozkinay
authors.forename: C
authors.initials: C
authors.lastname: Gunduz
authors.forename: T
authors.initials: T
authors.lastname: Cankaya
authors.forename: C
authors.initials: C
authors.lastname: Ozkinay
mesh_terms: D002675:Child, Preschool; D007446:Chromosome Inversion; D002878:Chromosomes, Human, Pair 1; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype