User:Mr. Ibrahem/XYYY syndrome
| XYYY syndrome | |
|---|---|
| Other names | 48,XYYY; triple Y syndrome[1] |
 | |
| Karyotype of XYYY syndrome | |
| Symptoms | Mild intellectual disability, irregular teeth, infertility, radioulnar synostosis, tall stature[2] |
| Usual onset | Present at birth[3] |
| Duration | Lifelong |
| Diagnostic method | Genetic testing (karyotype)[3] |
| Treatment | Speech therapy, educational support[1] |
| Prognosis | Generally okay[1] |
| Frequency | Rare[3] |
XYYY syndrome, also known as 48,XYYY, is a chromosomal disorder in which a male has two extra Y chromosomes.[1] Symptoms may include mild intellectual disability, irregular teeth, infertility, radioulnar synostosis, and tall stature.[2][4]
The underlying mechanism is believed to involve fertilization of a normal egg by a sperm containing three Y chromosomes.[3] Such a sperm could be produced by nondisjunction during meiosis.[3] In some, only part of their cells are affected.[1] Diagnosis is by genetic testing, often a karyotype, though other techniques may be used.[3] It is a type of sex chromosome aneuploidy.[5]
Speech therapy and educational support may be required.[1] Outcomes are generally okay, with a reasonable life expectancy.[1][3] XYYY syndrome is exceptionally rare, with about 10 reported cases as of 2018.[3] Though, further undiagnosed cases may exist.[1] The condition was first described in 1965.[3]
References
[change | change source]- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 Unique, Tartaglia N, Hultén M (2005). "XYYY syndrome" (PDF). Unique. Archived (PDF) from the original on 25 April 2021. Retrieved 18 March 2021.
- ↑ 2.0 2.1 "Orphanet: 48,XYYY syndrome". www.orpha.net. Archived from the original on 18 September 2022. Retrieved 31 January 2023.
- ↑ 3.0 3.1 3.2 3.3 3.4 3.5 3.6 3.7 3.8 Abedi M, Salmaninejad A, Sakhinia E (January 2018). "Rare 48,XYYY syndrome: case report and review of the literature". Clinical Case Reports. 6 (1): 179–184. doi:10.1002/ccr3.1311. PMC 5771943. PMID 29375860.
- ↑ "48,XYYY". GARD. Archived from the original on 28 April 2021. Retrieved 31 January 2023.
- ↑ Davis, Andrew S. (20 December 2012). Psychopathology of Childhood and Adolescence: A Neuropsychological Approach. Springer Publishing Company. p. 581. ISBN 978-0-8261-0920-0. Archived from the original on 1 February 2023. Retrieved 31 January 2023.