Carriers

What the Fragile X Gene Reveals about Family, Heredity, and Scientific Discovery

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Anne Skomorowsky: Carriers (2022, Columbia University Press)

English language

Published Dec. 7, 2022 by Columbia University Press.

ISBN:
978-0-231-19766-3
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The term “fragile X” comes from the appearance of the X chromosome under a microscope looks broken at the tip or “fragile.”

The genetic disorder fragile X syndrome (also termed Martin-Bell syndrome or marker X syndrome) is the most commonly inherited form of developmental and intellectual disability.

According to the National Fragile X Foundation, “The agreed upon prevalence of FXS in males is approximately 1 in 7,000 and in females 1 in 11,000.” Fragile X syndrome has been found in all major ethnic groups and races.

Author Anne Skomorowsky introduces the reader to several families who have children with the full fragile X mutation as well as the parents and sometimes, the grandparents who are also affected by associated fragile X syndromes. Because the science of fragile X gene is a rather complex subject (and beyond the scope of this review), anyone who is interested in the subject can access …

Subjects

  • Pediatrics