49,XXXXY: a distinct phenotype. Three new cases and review.
- 1 May 1998
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 35 (5) , 420-424
- https://doi.org/10.1136/jmg.35.5.420
Abstract
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 labelled as having Klinefelter syndrome or as being a "Klinefelter variant." Because of distinct clinical features, we delineate the 49,XXXXY syndrome as separate from Klinefelter syndrome, and emphasise the prevalence of congenital heart defects. We also report three new cases of 49,XXXXY syndrome and briefly discuss patient management.Keywords
This publication has 27 references indexed in Scilit:
- Congenital heart disease in the 48,XXYY syndromeClinical Genetics, 2008
- 49,XXXXY syndrome: behavioural and developmental profiles.Journal of Medical Genetics, 1991
- X-chromosome polysomy in the maleHuman Genetics, 1988
- 49, XXXYY Chromosome Anomaly in a Mentally Retarded ManThe British Journal of Psychiatry, 1986
- 49, XXXXY Chromosome Anomaly: An Unusual Variant of Klinefelter's SyndromeThe British Journal of Psychiatry, 1986
- 49,XXXXY SyndromeAmerican Journal of Medical Genetics, 1982
- Observations on the natural history of 49,XXXXY individualsAmerican Journal of Medical Genetics, 1982
- Epiphysial dysplasia: a constant finding in the XXXXY syndrome.Journal of Medical Genetics, 1978
- 49,XXXXY chromossomal anomaly in a neonate.Journal of Medical Genetics, 1971
- The 49,XXXXX chromosome constitution:Similarities to the 49,XXXXY conditionThe Journal of Pediatrics, 1971