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PREVALENCE OF FRAGILE X-CHROMOSOME

✍ Scribed by Webb, T.; Thake, A.; Todd, J.; Bundey, S.; Jancar, J.; Linna, Sirkka-Liisa; Similä, Seppo; Härö, Ensi; Herva, Riitta

Book ID
123085752
Publisher
The Lancet
Year
1984
Tongue
English
Weight
333 KB
Volume
323
Category
Article
ISSN
0140-6736

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Prevalence of fragile X syndrome
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The much-quoted prevalence figure of 1:1,000 males for fragile X syndrome is an overestimate in a mixed ethnic population. A reexamination of the individuals from whom those data were derived using molecular diagnostic techniques demonstrates a more realistic figure of 1:4,000 males.

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Laird et al. (1987) hypothesized that there are at least four cis-acting alleles or 'chromosome states' at Xq27 that increasingly delay replication at this chromosomal area resulting in its increasing fragility in vitro. When on the inactive X chromosome, the proposed third ('mutated') allele can