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

Telvi, L; Ion, A; Carel, J C; Desguerre, I; Piraud, M; Boutin, A M; Feingold, J; Ponsot, G; Fellous, M; McElreavey, K

Telvi, L; Ion, A; Carel, J C; Desguerre, I; Piraud, M; Boutin, A M; Feingold, J; Ponsot, G; Fellous, M; McElreavey, K.

Affiliation

Telvi L; Laboratoire de Cytogénétique, Hôpital Saint Vincent de Paul, Paris, France.

J Med Genet ; 33(9): 767-71, 1996 Sep.

Article in En | MEDLINE | ID: mdl-8880579

Subject(s)

Abnormalities, Multiple/genetics; Genitalia, Male/abnormalities; Hypogonadism/genetics; Intellectual Disability/genetics; Sex Chromosome Aberrations/genetics; X Chromosome; Adolescent; Genotype; Humans; Karyotyping; Male; Pedigree; Phenotype

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Full text: 1 Database: MEDLINE Main subject: Sex Chromosome Aberrations / X Chromosome / Abnormalities, Multiple / Genitalia, Male / Hypogonadism / Intellectual Disability Type of study: Risk_factors_studies Limits: Adolescent / Humans / Male Language: En Journal: J Med Genet Year: 1996 Type: Article Affiliation country: France

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