49,XXXXY syndrome was first described by Fraccaro and Lindsten in 1960. The incidence is estimated to be approximately 1 in 85,000 newborn males (Pallister 1982).
Synonyms and Related Disorders
49,XXXXY syndrome
Genetics/Basic Defects
- 1.
Etiology: three extra X chromosomes are responsible for the 49,XXXXY syndrome.
- 2.
Mechanism
- a.
All four X chromosomes are of maternal in origin.
- b.
Resulting from successive nondisjunctions in maternal meiosis I and II, fertilized by a normal Y sperm (Deng et al. 1991)
- c.
Inactivation of three out of four X chromosomes results in three Barr bodies (Lyon hypothesis).
- a.
- 3.
Effect of supernumerary X chromosomes: a direct relationship between the number of supernumerary X chromosomes and phenotypic abnormalities and mental retardation, with each additional chromosome increasing the severity
- a.
Somatic development most significantly affected
- i.
Skeletal abnormalities
- ii.
Cardiovascular abnormalities
...
- i.
- a.
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References
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(2012). XXXXY Syndrome. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_253
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DOI: https://doi.org/10.1007/978-1-4614-1037-9_253
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