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Pentasomy X

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Pentasomy X
Synonyms 49,XXXXX, penta X, XXXXX syndrome[1]
Foetal karyotype demonstrating pentasomy X.png
Specialty Medical genetics Edit this on Wikidata
Symptoms Intellectual disability, short height, low set ears, decreased muscle tone, developmental delay[1][2]
Complications Congenital heart disease[3]
Causes 5 X chromosomes[2]
Risk factors Older parents[2]
Diagnostic method Chromosomal analysis[2]
Differential diagnosis Down syndrome, triple X syndrome, tetrasomy X, Turner syndrome[2]
Treatment Based on symptoms[2]
Frequency Extremely rare[2]

Pentasomy X, also known as 49,XXXXX, is a chromosome abnormality where a female has five X chromosomes rather than the normal two.[2] Signs and symptoms may include intellectual disability, short height, low set ears, decreased muscle tone, and developmental delay.[1][2] Complications may include congenital heart disease.[3]

The condition is due to problems during the formation of the reproductive cells in a person's parents.[2] Risk factors include older parents at the time of conception.[2] Diagnosis is suspected based on symptoms and confirmed by chromosomal analysis.[2]

Treatment is based on symptoms.[2] The condition is extremely rare, with less than 40 reported cases as of 2011.[2][3] The condition was first described in 1963.[2]

Signs and symptoms

The main characteristics of pentasomy X are intellectual disability, short stature and craniofacial abnormalities.[4] Other physical traits include the following:

Causes

The aneuploidy is thought to be caused by problems occurring during meiosis, either in the mother or in both the mother and father. Successive nondisjunctions have been observed in the mother of at least one patient.[4][6]

The features of the syndrome likely arise due to failure of X-inactivation and the presence of multiple X chromosomes from the same parent causing problems with parental imprinting. In theory, X-inactivation should occur and leave only one X chromosome active in each cell. However, failure of this process has been observed in one individual studied. The reason for this is thought to be the presence of an unusually large, and imbalanced, number of X chromosomes interfering with the process.[6]

See also

References

  1. ^ a b c "49,XXXXX syndrome". GARD. Retrieved 22 January 2018. 
  2. ^ a b c d e f g h i j k l m n o "Penta X Syndrome". NORD (National Organization for Rare Disorders). 2003. Retrieved 22 January 2018. 
  3. ^ a b c Beery, Theresa A.; Workman, M. Linda (2011). Genetics and Genomics in Nursing and Health Care. F.A. Davis. p. 105. ISBN 9780803629967. 
  4. ^ a b c d e f g Cho, Y. G.; Kim, D. S.; Lee, H. S.; Cho, S. C.; Choi, S. I. (2004-09-01). "A case of 49,XXXXX in which the extra X chromosomes were maternal in origin". Journal of Clinical Pathology. 57 (9): 1004–1006. doi:10.1136/jcp.2004.017475. ISSN 0021-9746. PMC 1770429Freely accessible. PMID 15333671. 
  5. ^ a b c d e f g h i Monheit, A.; Francke, U.; Saunders, B.; Jones, K. L. (1980-10-01). "The penta-X syndrome". Journal of Medical Genetics. 17 (5): 392–396. doi:10.1136/jmg.17.5.392. ISSN 0022-2593. PMC 1048607Freely accessible. PMID 7218280. 
  6. ^ a b c Moraes, Lucia M.; Cardoso, Leila Ca; Moura, Vera Ls; Moreira, Miguel Am; Menezes, Albert N.; Llerena, Juan C.; Seuánez, Héctor N. (2009-10-07). "Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy". Molecular Cytogenetics. 2: 20. doi:10.1186/1755-8166-2-20. ISSN 1755-8166. PMC 2766382Freely accessible. PMID 19811657. 

External links

Classification
External resources