Other Names for this Disease
- XXXXY syndrome
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chromosome abnormality characterized by the presence of 3 extra X chromosomes in males. It is sometimes referred to as a variant of Klinefelter syndrome, but differs from Klinefelter syndrome in many ways and is more severe. Signs and symptoms of 49,XXXXY syndrome can vary but may include learning difficulties or intellectual disability; low muscle tone; hypogonadism; infertility; delayed growth; distinctive facial features; and a variety of birth defects that may affect the heart, bones, brain and/or kidneys. It is usually not inherited and caused by a random error in cell division. Treatment depends on the features in each person and is often managed by a multidisciplinary team.49,XXXXY syndrome is a type of
Last updated: 5/12/2016
- Carole Corsini and Pierre Sarda. 49,XXXXY syndrome. Orphanet. May, 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264.
- 49,XXXXY. Unique. 2015; http://www.rarechromo.org/information/Chromosome_X/XXXXY%20syndrome%20FTNW.pdf.
- Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about 49,XXXXY syndrome.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss 49,XXXXY syndrome. Click on the link to view a sample search on this topic.
- Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P. 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome Acta Paediatr. 2011 Jun;100(6):851-60.