Abnormal chromosome complement resulting from a familial inversion of chromosome 2.
It has been suggested that pericentric inversions of chromosome 2 increase the risk for spontaneous abortion but do not increase the risk for unbalanced recombinant offspring. We report our experience of a familial pericentric inversion of chromosome 2 resulting in two unbalanced recombinant offspring. Both subjects have 46,XX,rec(2),dup q,inv(2)(p25q35).
Richter
S
S
Genetics Center of Southwest Biomedical Research Institute, Scottsdale, Arizona.
Lockwood
B
B
Lockwood
D
D
Allanson
J
J
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002889:Chromosomes, Human, Pair 2; D002658:Developmental Disabilities / Q000235:genetics; D005146:Facial Asymmetry / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D005810:Multigene Family; D010375:Pedigree; D011995:Recombination, Genetic