Article
Investigation of the segregation of the fragile X mutation in daughters of obligate carrier women.
American journal of medical genetics - 1 Jan 2000
Sherman S L, Turner G, Robinson H, Laing S
Abstract excerpt
Two reports have suggested that over 50% of the offspring of obligate carrier women receive the mutation for the fra(X) or the Martin-Bell syndrome [Webb et al, 1986; Fryns, 1984]. Such a segregation distortion is difficult to assess for the fra(X) syndrome because of incomplete penetrance, variable expression and probable ascertainment biases. We have attempted to evaluate this possible segregation distortion in...
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