Familial pericentric inversion (13) detected by antenatal diagnosis.
A recombinant rec (13), dup q chromosome was diagnosed in a 17-week fetus following amniocentesis. Subsequently, a familial pericentric inversion of chromosome 13 was seen to be segregating in the family and the same recombinant 13 was present in a mentally retarded aunt of the fetus. The clinical features of the carriers of the inversion product are discussed with reference to previous cases.
D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002901:Chromosomes, Human, 13-15; D005260:Female; D006579:Heterozygote; D006801:Humans; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012737:Sex Factors