XYY syndrome

XYY syndrome
Other names47,XYY[1]
Karyotype from a male with 47,XYY
SpecialtyMedical genetics
SymptomsNone, being taller than the parents, Mildly unusual physical features, severe acne, poor coordination, weak muscle tone, learning and speech problems[1][2]
Usual onsetAt conception[3]
DurationLifelong
CausesTwo Y chromosomes in males[2]
Diagnostic methodGenetic testing[2]
Differential diagnosisKlinefelter syndrome, Marfan syndrome, Sotos syndrome[2]
PreventionNone[4]
TreatmentSpeech therapy, tutoring[2]
PrognosisNormal life expectancy[2]
Frequency~1 in 1,000 males[1]

XYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an extra Y chromosome.[1] There are usually few symptoms.[2] These may include being taller than average and an increased risk of learning disabilities.[1][2] The person is generally otherwise normal, including typical rates of fertility.[1]

The condition is generally not inherited but rather occurs as a result of a random event during sperm development.[1] Diagnosis is by a chromosomal analysis, but most of those affected are not diagnosed within their lifetime.[2] There are 47 chromosomes, instead of the usual 46, giving a 47,XYY karyotype.[1]

Treatment may include speech therapy or extra help with schoolwork, however outcomes are generally positive.[2] The condition occurs in about 1 in 1,000 male births.[1] Many people with the condition are unaware that they have it.[4] The condition was first described in 1961.[5]

  1. ^ a b c d e f g h i "47,XYY syndrome". Genetics Home Reference. January 2009. Retrieved 2017-03-19.
  2. ^ a b c d e f g h i j "XYY Syndrome". NORD (National Organization for Rare Disorders). 2012. Retrieved 11 November 2017.
  3. ^ "XYY Syndrome".
  4. ^ a b "47, XYY syndrome". Genetic and Rare Diseases Information Center (GARD). 2017. Archived from the original on 11 November 2017. Retrieved 11 November 2017.
  5. ^ Bostwick, David G.; Cheng, Liang (2014). Urologic Surgical Pathology E-Book. Elsevier Health Sciences. p. 682. ISBN 978-0-323-08619-6.

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