U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Double Y syndrome

MedGen UID:
473794
Concept ID:
C3266843
Disease or Syndrome
Synonyms: 47,XYY syndrome; XYY Karyotype; XYY syndrome; YY syndrome
SNOMED CT: Y disomy (50749006); 47,XYY syndrome (50749006); Double Y syndrome (50749006); XYY syndrome (50749006)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0019339
Orphanet: ORPHA8

Definition

47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of an individual's cells. Although many people with this condition are taller than average, the chromosomal change sometimes causes no unusual physical features. Most individuals with 47,XYY syndrome have normal production of the male sex hormone testosterone and normal male sexual development, and they are usually able to father children.

47,XYY syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Affected children can have delayed development of motor skills (such as sitting and walking) or weak muscle tone (hypotonia). Other signs and symptoms of this condition include hand tremors or other involuntary movements (motor tics), seizures, and asthma. Individuals with 47,XYY syndrome have an increased risk of behavioral, social, and emotional difficulties compared with their unaffected peers. These problems include attention-deficit/hyperactivity disorder (ADHD); depression; anxiety; and autism spectrum disorder, which is a group of developmental conditions that affect communication and social interaction.

Physical features related to 47,XYY syndrome can include increased belly fat, a large head (macrocephaly), unusually large teeth (macrodontia), flat feet (pes planus), fifth fingers that curve inward (clinodactyly), widely spaced eyes (ocular hypertelorism), and abnormal side-to-side curvature of the spine (scoliosis). These characteristics vary widely among people with this condition. [from MedlinePlus Genetics]

Term Hierarchy

Professional guidelines

PubMed

Vargas HM, Rolf MG, Wisialowski TA, Achanzar W, Bahinski A, Bass A, Benson CT, Chaudhary KW, Couvreur N, Dota C, Engwall MJ, Michael Foley C, Gallacher D, Greiter-Wilke A, Guillon JM, Guth B, Himmel HM, Hegele-Hartung C, Ito M, Jenkinson S, Chiba K, Lagrutta A, Levesque P, Martel E, Okai Y, Peri R, Pointon A, Qu Y, Teisman A, Traebert M, Yoshinaga T, Gintant GA, Leishman DJ, Valentin JP
Clin Pharmacol Ther 2021 Feb;109(2):310-318. Epub 2020 Sep 24 doi: 10.1002/cpt.2029. PMID: 32866317Free PMC Article
Miller A, Kim N, Zmistowski B, Ilyas AM, Matzon JL
Hand (N Y) 2017 Nov;12(6):541-545. Epub 2016 Nov 1 doi: 10.1177/1558944716677535. PMID: 29091486Free PMC Article
Peña L, Moreno CB, Gutierrez-Alvarez AM
Neurologia 2015 Sep;30(7):433-8. Epub 2014 Jun 12 doi: 10.1016/j.nrl.2014.04.009. PMID: 24929444

Recent clinical studies

Etiology

Berglund A, Viuff MH, Skakkebæk A, Chang S, Stochholm K, Gravholt CH
Orphanet J Rare Dis 2019 Jan 14;14(1):16. doi: 10.1186/s13023-018-0976-2. PMID: 30642344Free PMC Article

Diagnosis

Berglund A, Viuff MH, Skakkebæk A, Chang S, Stochholm K, Gravholt CH
Orphanet J Rare Dis 2019 Jan 14;14(1):16. doi: 10.1186/s13023-018-0976-2. PMID: 30642344Free PMC Article

Prognosis

Berglund A, Viuff MH, Skakkebæk A, Chang S, Stochholm K, Gravholt CH
Orphanet J Rare Dis 2019 Jan 14;14(1):16. doi: 10.1186/s13023-018-0976-2. PMID: 30642344Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...