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Chromosome 1q deletion

MedGen UID:
1825942
Concept ID:
C5679674
Cell or Molecular Dysfunction
Synonym: Partial deletion of the long arm of chromosome 1
 
Monarch Initiative: MONDO:0022756
Orphanet: ORPHA262001

Definition

Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosome 1q deletion

Professional guidelines

PubMed

Chen CP, Chern SR, Tsai FJ, Lin HH, Wui PC, Lee CC, Pan CW, Wang W
Genet Couns 2010;21(4):451-5. PMID: 21290974
Fonseca R, Bergsagel PL, Drach J, Shaughnessy J, Gutierrez N, Stewart AK, Morgan G, Van Ness B, Chesi M, Minvielle S, Neri A, Barlogie B, Kuehl WM, Liebisch P, Davies F, Chen-Kiang S, Durie BG, Carrasco R, Sezer O, Reiman T, Pilarski L, Avet-Loiseau H; International Myeloma Working Group
Leukemia 2009 Dec;23(12):2210-21. Epub 2009 Oct 1 doi: 10.1038/leu.2009.174. PMID: 19798094Free PMC Article
Heselmeyer-Haddad K, Chaudhri N, Stoltzfus P, Cheng JC, Wilber K, Morrison L, Auer G, Ried T
Cancer Res 2002 Apr 15;62(8):2365-9. PMID: 11956098

Recent clinical studies

Etiology

Fieuw A, Kumps C, Schramm A, Pattyn F, Menten B, Antonacci F, Sudmant P, Schulte JH, Van Roy N, Vergult S, Buckley PG, De Paepe A, Noguera R, Versteeg R, Stallings R, Eggert A, Vandesompele J, De Preter K, Speleman F
Int J Cancer 2012 Jun 1;130(11):2599-606. Epub 2011 Aug 29 doi: 10.1002/ijc.26317. PMID: 21796619

Diagnosis

Thompson MD, Henry RK
Horm Res Paediatr 2017;87(5):350-353. Epub 2016 Sep 16 doi: 10.1159/000449223. PMID: 27631398
Mitsuhashi T, Shimizu Y, Ban S, Ogawa F, Matsutani M, Shimizu M, Hirose T
Acta Cytol 2007 Jul-Aug;51(4):657-60. doi: 10.1159/000325821. PMID: 17718148

Therapy

Thompson MD, Henry RK
Horm Res Paediatr 2017;87(5):350-353. Epub 2016 Sep 16 doi: 10.1159/000449223. PMID: 27631398

Clinical prediction guides

Fieuw A, Kumps C, Schramm A, Pattyn F, Menten B, Antonacci F, Sudmant P, Schulte JH, Van Roy N, Vergult S, Buckley PG, De Paepe A, Noguera R, Versteeg R, Stallings R, Eggert A, Vandesompele J, De Preter K, Speleman F
Int J Cancer 2012 Jun 1;130(11):2599-606. Epub 2011 Aug 29 doi: 10.1002/ijc.26317. PMID: 21796619

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