Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present

Abstract

Two sisters with premature menopause and a small deletion of the long arm of one of their X chromosomes [del (X)(pter→q26.3:)] were investigated with polymorphic DNA probes near the breakpoint. The deleted chromosome retained the factor IX (F9) locus and the loci DXS51 (52A) and DXS100 (pX45h), which are proximal to F9. However, the factor VIII (F8) locus… (More)
DOI: 10.1007/BF00283050

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