Familial transmission of a duplication‐deficiency X chromosome associated with partial Turner syndrome

A rearranged X chromosome Xqter-->q13::Xp11.4-->qter was found in a mother and her two daughters, who were affected with short stature, cubitus valgus and hypothyroidism. The mother's menstrual cycles were normal until the age of premenopause. Similar previously reported cases are considered in an attempt to explain the possible origin of this X recombinant, fertility and clinical traits.