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Trisomy X syndrome

MedGen UID:
113140
Concept ID:
C0221033
Disease or Syndrome
Synonyms: 47 XXX syndrome; Triple X syndrome; Triple-X chromosome syndrome; Triple-X female; Triplo X syndrome; Trisomy X; XXX syndrome
SNOMED CT: Triple X female (35111009); Karyotype 47, XXX (35111009); Trisomy X syndrome (35111009); XXX syndrome (35111009)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0018066
Orphanet: ORPHA3375

Definition

Trisomy X, also called triple X syndrome or 47,XXX, is characterized by the presence of an additional X chromosome in each of a female's cells. Although females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most females with trisomy X have normal sexual development and are able to conceive children.

Trisomy X is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), and behavioral and emotional difficulties are also possible, but these characteristics vary widely. Seizures or kidney abnormalities occur in about 10 percent of affected females. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Trisomy X syndrome in Orphanet.

Professional guidelines

PubMed

Navon D
Dev Med Child Neurol 2022 Dec;64(12):1462-1469. Epub 2022 Aug 13 doi: 10.1111/dmcn.15376. PMID: 35962997
Xie D, Yang W, Fang J, Li H, Xiong L, Kong F, Wang A, Liu Z, Wang H
J Obstet Gynaecol Res 2021 Mar;47(3):865-872. Epub 2020 Dec 28 doi: 10.1111/jog.14569. PMID: 33372274
Albuquerque EVA, Scalco RC, Jorge AAL
Eur J Endocrinol 2017 Jun;176(6):R339-R353. Epub 2017 Mar 8 doi: 10.1530/EJE-16-1054. PMID: 28274950

Recent clinical studies

Etiology

Li L, Shi Y, Zhao N, Liu Z, Zhao Z, Song Z, Zheng S, Yan M, Leng Z, Chen S, Shang G, Kou H, Liu H
Eur J Med Res 2021 Dec 7;26(1):139. doi: 10.1186/s40001-021-00617-4. PMID: 34876225Free PMC Article
Kuiper K, Swaab H, Tartaglia N, van Rijn S
Am J Med Genet A 2021 Dec;185(12):3664-3674. Epub 2021 Jul 8 doi: 10.1002/ajmg.a.62418. PMID: 34240550Free PMC Article
Davis SM, Soares K, Howell S, Cree-Green M, Buyers E, Johnson J, Tartaglia NR
Reprod Sci 2020 Nov;27(11):1985-1991. Epub 2020 Jun 23 doi: 10.1007/s43032-020-00216-4. PMID: 32578162Free PMC Article
Udhnani M, Maiman M, Blumenthal JD, Clasen LS, Wallace GL, Giedd JN, Raznahan A, Lee NR
J Int Neuropsychol Soc 2018 Oct;24(9):917-927. doi: 10.1017/S1355617718000723. PMID: 30375320
Lenroot RK, Blumenthal JD, Wallace GL, Clasen LS, Lee NR, Giedd JN
Genes Brain Behav 2014 Nov;13(8):841-9. Epub 2014 Oct 27 doi: 10.1111/gbb.12180. PMID: 25287572Free PMC Article

Diagnosis

Li L, Shi Y, Zhao N, Liu Z, Zhao Z, Song Z, Zheng S, Yan M, Leng Z, Chen S, Shang G, Kou H, Liu H
Eur J Med Res 2021 Dec 7;26(1):139. doi: 10.1186/s40001-021-00617-4. PMID: 34876225Free PMC Article
Kuiper K, Swaab H, Tartaglia N, van Rijn S
Am J Med Genet A 2021 Dec;185(12):3664-3674. Epub 2021 Jul 8 doi: 10.1002/ajmg.a.62418. PMID: 34240550Free PMC Article

Therapy

Li L, Shi Y, Zhao N, Liu Z, Zhao Z, Song Z, Zheng S, Yan M, Leng Z, Chen S, Shang G, Kou H, Liu H
Eur J Med Res 2021 Dec 7;26(1):139. doi: 10.1186/s40001-021-00617-4. PMID: 34876225Free PMC Article

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