A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.

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) (...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Telvi, L, Ion, A, Carel, J C, Desguerre, I, Piraud, M, Boutin, A M, Feingold, J, Ponsot, G, Fellous, M, McElreavey, K
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: 1996
Θέματα:
Research Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050733/
https://ncbi.nlm.nih.gov/pubmed/8880579
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