Article
A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.
Journal of medical genetics - 1 Sept 1996
Telvi L, Ion A, Carel J C, Desguerre I, Piraud M, Boutin A M, Feingold J, Ponsot G, Fellous M, McElreavey K
Abstract excerpt
An unusual familial case of three sibs with a partial duplication of distal Xp sequences is described. The proband, an 18 year old boy, showed mental retardation, severe dysmorphic features, hypogonadotrophic hypogonadism (HHG), and hypoplastic external genitalia. His karyotype was 46,Y,inv dup(X) (p22.11-->p 22.32). The proband has two sisters each with the same inv dup(Xp) chromosome. Both sisters presented...
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