10q partial trisomy syndrome

MedGen UID:: 539251
•Concept ID:: C0265437
•: Disease or Syndrome

Synonym:	Partial duplication of the long arm of chromosome 10
SNOMED CT:	10q partial trisomy syndrome (73035005)

Monarch Initiative:	MONDO:0016961
Orphanet:	ORPHA262914

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVChromosome 10q duplication syndrome
- CROGV10q partial trisomy syndrome
  - CROGVDistal trisomy 10q
  - CROGVNon-distal trisomy 10q

Chromosome 10q duplication syndrome
- 10q partial trisomy syndrome

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

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Diagnosis

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: 26088875 Free PMC Article

See all (3)

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10q partial trisomy syndrome

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

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