A case of Turner's syndrome with familial balanced translocation t(1;2)(q32;q21)mat.

Author:

Kondo I,Hamaguchi H,Matsuura A,Nakajima H,Koyama A,Takita H

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Partial trisomy 7p associated with familial 7p; 22q translocation;Larson, L.M.; Wasdahl, W.A.; Jalal, S.M.;Journal of Medical Genetics,1977

2. Chromosome 7 short arm deletion and craniosynostosis. A 7p - syndrome;McPherson, E.; Hall, J.G.; Hickman, R.; Gong, B.T.; Norwood, T.H.; Hoehn, H.;Human Genetics,1976

3. The only other case of 7p duplication (partial trisomy) of which we are aware is that described by Larson;et al; and there are strong similarities between the two families. In both, the unbalanced situation arose from a reciprocal translocation involving 22q, and in both it was paternal in origin, though, in general, derivative chromosomes are more usually maternally transmitted. Breakpoints in the two families are not identical, 7p21 in Larson's family, and 7p1 5 in this family,1977

4. To our knowledge, 10 cases of Down's syndrome coexisting with a familial translocation involving chromosomes other than 21 have been reported;al., 1963, Tenconi;(Chrysostomidou et al; In addition, 6 cases of Klinefelter's syndrome and a case of 18 trisomy syndrome with a familial translocation involving different chromosomes have also been described,1974

5. A number of cases of Down's syndrome who had an inherited balanced translocation not relating to chromosome 21 have been reported. Some authors suggested a correlation between a translocation not involving chromosome 21 and non-disjunction of;Hamerton;al; Other authors, however, have questioned this suggestion (Tenconi et,1977

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