Pericentric inversion (13) with two different recombinants in the same family.
A family is described in which a pericentric inversion (13) was discovered in the father after the birth of an abnormal baby. In a further pregnancy amniocentesis was carried out. The fetal karyotype showed a rec(13)dup p,inv(13)(p11q22). The fetus's abnormalities were similar to those observed in the first child. Family studies showed that a first cousin, mentally retarded, had a rec(13)dup q,inv(13)(p11q22) karyotype. In this family, the risk of occurrence of a recombinant in offspring of an inversion carrier could be as high as 40%.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D007446:Chromosome Inversion; D002901:Chromosomes, Human, 13-15 / Q000648:ultrastructure*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011995:Recombination, Genetic; D012306:Risk