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47, XYY syndrome (CUI C3266843) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C3266843

Semantic Type: Disease or Syndrome

GARD Definition: 47, XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male's cells. Males with this condition typically do not have unusual physical features and usually have normal sexual development and are able to father children. Signs and symptoms vary widely among affected males and may include being taller than average; an increased risk of learning disabilities and delayed speech and language skills; delayed motor skills (such as sitting and walking); weak muscle tone (hypotonia); hand tremors or other involuntary movements (motor tics); and behavioral and emotional difficulties. A small percentage of males with 47, XYY syndrome are diagnosed with autism spectrum disorders. Most cases are not inherited. - this information is from GARD/ORDR/NCATS.

Synonyms & Abbreviations: (see Synonym Details)
47 XYY syndrome
47, XYY syndrome
47,XYY syndrome

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
DATE_CREATED 2015-01-22T00:04:00 GARD
DISEASE_IDENTIFIER_ID 34114 GARD
FR 26 MSH
HAS_GARD_PAGE true GARD
HM D014997 MSH
HM D025064 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2006-11-10T00:00:00 GARD
MDA 20100625 MSH
MMR 20150817 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/5674/47-xyy-syndrome/resources/1 GARD
RN 0 MSH
SC 3 MSH
SOS An extra copy of the Y chromosome in each of a male's cells that arises through GENETIC NON-DISJUNCTION in the embryo. Affected males may be taller than average, but have no other unique physical features; SEXUAL DEVELOPMENT and FERTILITY are unaffected in most cases. 47,XYY syndrome is associated with an increased risk for LEARNING DISORDERS; DEVELOPMENTAL DISABILITIES; HYPOTONIA, and TICS; these characteristics vary widely among affected boys and men. AUTISM SPECTRUM DISORDERS are diagnosed in a minority of cases. MSH
TERMUI T735672 MSH
TERMUI T760764 MSH
TH GHR (2014) MSH
TH ORD (2010) MSH

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C3266843

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