XYYYY syndrome

Source: Wikipedia, the free encyclopedia.
Man with XYYYY syndrome

XYYYY syndrome, also known as 49,XYYYY, is an exceptionally rare

48,XYYY than 49,XYYYY cells.[1] Due to the extreme rarity of the disorder, little is understood about it,[2] and the phenotype appears to be variable.[3]

Phenotype

XYYYY syndrome is associated with developmental and skeletal anomalies that are also observed in other sex chromosome

attention-deficit hyperactivity disorder are both thought to be associated with the syndrome.[1] External genitalia are normal, but testicular insufficiency appears to develop during childhood and lead to adult azoospermia.[2]

History

Non-mosaic XYYYY syndrome was first recorded in 1981 in a 14-month-old boy, though a mosaic case with mixed 49,XYYYY and

45,X0 cells had been recorded in 1968.[6] This case was followed up at the age of seven, providing the only known long-term follow-up of the disorder.[3] Only two adults with XYYYY syndrome have been described.[1]

Prevalence

The disorder's prevalence is estimated to be below 1 in 1,000,000.[4]

See also

Notes

  1. ^ While some writers suggest intellectual disability is moderate to severe,[4] this has not been recorded in any descriptions of the disorder.[1]

References

  1. ^
    PMID 28137251
    .
  2. ^
    PMID 7567329
    .
  3. ^
    S2CID 37103837
    .
  4. ^ a b "49,XYYYY syndrome". Orphanet. Retrieved 3 May 2021.
  5. ISBN 978-3-540-67136-7
    .
  6. S2CID 36727592
    .
Retrieved from "https://en.wikipedia.org/w/index.php?title=XYYYY_syndrome&oldid=1189491994"