FAMILIAL PERICENTRIC-INVERSION OF CHROMOSOME 13,46,XX,INV(13)(P13Q11)- A NEW VARIANT

Authors
MOHAMMED FM MURTHY DSK FARAG TI ALAWADI SA ALOTHMAN SA HAMMAD I
Citation
Fm. Mohammed et al., FAMILIAL PERICENTRIC-INVERSION OF CHROMOSOME 13,46,XX,INV(13)(P13Q11)- A NEW VARIANT, Annales de genetique, 36(3), 1993, pp. 181-185
Citations number
20
Categorie Soggetti
Genetics & Heredity
Journal title
Annales de genetique → ACNP
ISSN journal
00033995
Volume
36
Issue
3
Year of publication
1993
Pages
181 - 185
Database
ISI
SICI code
0003-3995(1993)36:3<181:FPOC1>2.0.ZU;2-K
Abstract
A 10-year-old female with right oblique inguinal hernia was investigat ed to exclude an XY karyotype. Chromosome analysis of peripheral blood showed 46,XX,inv(13)(p13;q11). In vitro aneuploidy was observed in tw o cells : a) 46,XX,inv(l3), inv(13); b) 47,XX, +inv(l3). Her father an d three sisters were carriers for inv(l3). Herein the authors review b riefly familial inv(l3)'s and report a new variant involving breakpoin ts (pl3;q11).