Familial partial 7q monosomy resulting from segregation of an insertional chromosome rearrangement.
- 1 December 1979
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 16 (6) , 461-466
- https://doi.org/10.1136/jmg.16.6.461
Abstract
A family with an insertional type of chromosome rearrangement involving chromosomes 7 and 13 is reported. An interstitial deletion of a segment of chromosome 7 (7q32 .fwdarw. 34) had been inserted into the long arm of chromosome 13 at breakpoint q32. Segregation of this chromosome rearrangement gave rise to 3 subjects who were monosomic for the involved segment of chromosome 7. The karyotypes were: 46,XX, or XY,der(7)ins(13;7) (q32;q32q34). All 3 subjects were mentally retarded and had minor dysmorphic features. The Kidd, Colton and Kell blood group systems were investigated, but were not informative.This publication has 18 references indexed in Scilit:
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