A family study of congenital X linked sideroblastic anaemia.
نویسندگان
چکیده
We report on the cytogenetic findings in a family study of pyridoxine responsive, X linked sideroblastic anaemia. An increase in the number of X chromosomes was observed in a small proportion of metaphases prepared from five female members, but these findings did not strictly correlate with the carrier status of the condition. No consistent cytogenetic abnormality could be identified or associated with this rare familial condition. The diagnosis and counselling of carriers of this condition is discussed.
منابع مشابه
Linkage analysis of a large pedigree with hereditary sideroblastic anaemia.
A large pedigree showing a history of pyridoxine responsive X linked sideroblastic anaemia was screened with several polymorphic DNA markers from the X chromosome. Linkage analysis between each marker and disease status was performed, giving a maximum two point lod score of 3.64 at zero recombination with the microsatellite marker PGK1P1 at Xq11.2-12. Close linkage to PGK at Xq13.3, one of the ...
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عنوان ژورنال:
- Journal of medical genetics
دوره 27 1 شماره
صفحات -
تاریخ انتشار 1990