9p deletion and distal 9q duplication due to a paternal pericentric inversion 9(p22q32).
A female infant with 46,XX,rec(9), dup q,inv(9)(p22q32)pat is presented. She had a duplication from 9q32 to qter and a deletion from 9p22 to 9pter. Phenotypical abnormalities observed corresponded with features noted in cases with distal dup (9q), while pathognomonic features of del(9p) syndrome were not observed.
Sonoda
T
T
Department of Pediatrics, Miyazaki Medical College, Japan.
Ohba
K
K
Ohdo
S
S
Sameshima
K
K
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002899:Chromosomes, Human, Pair 9; D005220:Fathers; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male