U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Chromosome 10q duplication syndrome

MedGen UID:
167074
•Concept ID:
C0795840
•
Disease or Syndrome
Synonyms: 10q duplication syndrome; 10q+ syndrome; Dup(10q) syndrome; Trisomy 10q

Definition

Duplication of the long arm of chromosome 10 with cardiac, renal, and respiratory complications, orofacial dysmorphism, and psychomotor retardation which vary with different karyotypes. [from MCA/MR]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Prenatal diagnosis of partial monosomy 2q (2q37.3→qter) and partial trisomy 10q (10q24.31→qter) of paternal origin associated with increased nuchal translucency and abnormal maternal serum screening results.
Chen CP, Liou JD, Seow KM, Chern SR, Wu PS, Chen SW, Wu FT, Town DD, Chen LF, Wang W
Taiwan J Obstet Gynecol 2020 Sep;59(5):758-762. doi: 10.1016/j.tjog.2020.07.024. PMID: 32917332
Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization.
Alesi V, Orlando V, Genovese S, Loddo S, Pisaneschi E, Pompili D, Surace C, Restaldi F, Digilio MC, Dallapiccola B, Dentici ML, Novelli A
Cytogenet Genome Res 2017;151(4):179-185. Epub 2017 May 6 doi: 10.1159/000475490. PMID: 28478456

Diagnosis

Prenatal diagnosis of partial monosomy 2q (2q37.3→qter) and partial trisomy 10q (10q24.31→qter) of paternal origin associated with increased nuchal translucency and abnormal maternal serum screening results.
Chen CP, Liou JD, Seow KM, Chern SR, Wu PS, Chen SW, Wu FT, Town DD, Chen LF, Wang W
Taiwan J Obstet Gynecol 2020 Sep;59(5):758-762. doi: 10.1016/j.tjog.2020.07.024. PMID: 32917332
Prenatal diagnosis of sub-microscopic partial trisomy 10q using chromosomal microarray analysis in a phenotypically abnormal fetus with normal karyotype.
Browne PC, Adam S, Badr M, Brooks CR, Edwards J, Walker P, Mohamed S, Gregg AR
J Neonatal Perinatal Med 2016 May 17;9(2):217-22. doi: 10.3233/NPM-16915109. PMID: 27197934
Distal 10q trisomy with copy number gain in chromosome region 10q23.1-10q25.1: the Wnt signaling pathway is the most pertinent to the gene content in the region of copy number gain: a case report.
Wong SL, Chou HH, Chao CN, Leung JH, Chen YH, Hsu CD
BMC Res Notes 2015 Jun 19;8:250. doi: 10.1186/s13104-015-1213-x. PMID: 26088875Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...