Three unrelated cases of paracentric inversions of 1p in individuals with abnormal phenotypes.
Paracentric inversions, involving a rearrangement within one chromosome arm, are rare. Although carriers of balanced paracentric inversions should theoretically not be at risk for abnormal offspring, such cases have been reported. We report on 2 unrelated cases of inherited paracentric inversions of 1p with breakpoints at p32 and p36.1 and p32.3 and p36.22 in individuals with abnormal phenotypes. Another case of 2 abnormal monozygotic twins with a de novo paracentric inversion of 1p with breakpoints at p22 and p34 is presented as well.
Estop
A M
AM
Department of Medical Genetics, Western Pennsylvania Hospital 15224.
Bansal
V
V
Lin
A
A
Levinson
F
F
Karlin
S M
SM
Surti
U
U
Wenger
S L
SL
Steele
M W
MW
D000015:Abnormalities, Multiple / Q000235:genetics*; D002478:Cells, Cultured; D002675:Child, Preschool; D002873:Chromosome Fragility; D007446:Chromosome Inversion; D002878:Chromosomes, Human, Pair 1; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D014430:Twins, Monozygotic / Q000235:genetics