Familial pericentric inversion of chromosome 13, 46,XX,inv (13)(p13;q11): a new variant.
A 10-year-old female with right oblique inguinal hernia was investigated to exclude an XY karyotype. Chromosome analysis of peripheral blood showed 46,XX,inv(13)(p13;q11). In vitro aneuploidy was observed in two cells: a) 46,XX,inv(13), inv(13); b) 47,XX, +inv(13). Her father and three sisters were carriers for inv(13). Herein the authors review briefly familial inv(13)'s and report a new variant involving breakpoints (p13;q11).
Mohammed
F M
FM
Kuwait Medical Genetics Centre, Maternity Hospital, Safat.
Krishna Murthy
D S
DS
Farag
T I
TI
al-Awadi
S A
SA
al-Othman
S A
SA
Hammad
I
I
D002648:Child; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002882:Chromosomes, Human, Pair 13; D005190:Family; D005260:Female; D006552:Hernia, Inguinal / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D010641:Phenotype