49,XXXXY: a distinct phenotype. Three new cases and review.

doi:10.1136/jmg.35.5.420

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Article

49,XXXXY: a distinct phenotype. Three new cases and review.

Journal of medical genetics - 1 May 1998

Peet J, Weaver D D, Vance G H

Abstract excerpt

Over 100 cases of 49,XXXXY syndrome have been published to date. Classic findings include radioulnar synostosis, hypogonadism, and mental retardation. The majority of reported cases have not distinguished the 49,XXXXY syndrome from Klinefelter syndrome (47,XXY), and these patients are frequently...

Topics

Abnormalities, Multiple
Adolescent
Child, Preschool
Humans
Intellectual Disability
Karyotyping
Klinefelter Syndrome
Male
Phenotype
Sex Chromosome Aberrations

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