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XYYY syndrome
Other names48,XYYY; triple Y syndrome [1]
Karyotype of XYYY syndrome
SymptomsMild intellectual disability, irregular teeth, infertility, radioulnar synostosis, tall stature [2]
Usual onsetPresent at birth [3]
DurationLifelong
Diagnostic method Genetic testing ( karyotype) [3]
Treatment Speech therapy, educational support [1]
PrognosisGenerally okay [1]
FrequencyRare [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

  1. ^ a b c d e f g h Unique, Tartaglia N, Hultén M (2005). "XYYY syndrome" (PDF). Unique. Archived (PDF) from the original on 25 April 2021. Retrieved 18 March 2021.
  2. ^ a b "Orphanet: 48,XYYY syndrome". www.orpha.net. Archived from the original on 18 September 2022. Retrieved 31 January 2023.
  3. ^ a b c d e f g h i 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.
  4. ^ "48,XYYY". GARD. Archived from the original on 28 April 2021. Retrieved 31 January 2023.
  5. ^ 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.
From Wikipedia, the free encyclopedia

Template:Good article is only for Wikipedia:Good articles.

XYYY syndrome
Other names48,XYYY; triple Y syndrome [1]
Karyotype of XYYY syndrome
SymptomsMild intellectual disability, irregular teeth, infertility, radioulnar synostosis, tall stature [2]
Usual onsetPresent at birth [3]
DurationLifelong
Diagnostic method Genetic testing ( karyotype) [3]
Treatment Speech therapy, educational support [1]
PrognosisGenerally okay [1]
FrequencyRare [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

  1. ^ a b c d e f g h Unique, Tartaglia N, Hultén M (2005). "XYYY syndrome" (PDF). Unique. Archived (PDF) from the original on 25 April 2021. Retrieved 18 March 2021.
  2. ^ a b "Orphanet: 48,XYYY syndrome". www.orpha.net. Archived from the original on 18 September 2022. Retrieved 31 January 2023.
  3. ^ a b c d e f g h i 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.
  4. ^ "48,XYYY". GARD. Archived from the original on 28 April 2021. Retrieved 31 January 2023.
  5. ^ 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.

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