title: A case of a paracentric inversion inv(7)(q11q22). Prenatal detection and counselling.
abstract: A paracentric inversion in the long arm of a number 7 chromosome was detected in an amniotic cell culture from a 41 year old woman, screened because of maternal age. The karyotype was 46, XX, inv(7) (q11q22). Her husband carried an identical inversion. The parents were advised that the pregnancy should continue and a healthy infant was born at term. Prenatal diagnosis and counselling for paracentric inversion heterozygotes are discussed in the light of published and unpublished cases.
mesh_terms: D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000032:analysis; D007446:Chromosome Inversion; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D007621:Karyotyping; D008297:Male; D008423:Maternal Age; D008875:Middle Aged; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis