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Familial pericentric inversion of chromosome 13, 46,XX,inv (13)(p13;q11): a new variant
F M Mohammed1, D S Krishna Murthy, T I Farag
1Kuwait Medical Genetics Centre, Maternity Hospital, Safat.
Annales De Genetique
|January 1, 1993
Abstract:
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).