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Partial duplication of the short arm of chromosome 2

MedGen UID:
208635
Concept ID:
C0795803
Disease or Syndrome
Synonyms: Chromosome 2, trisomy 2p; Duplication 2p; Trisomy 2p
 
Monarch Initiative: MONDO:0016939
Orphanet: ORPHA262698

Definition

Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication 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  
  • CROGVPartial duplication of the short arm of chromosome 2

Recent clinical studies

Etiology

Grosso S, Pucci L, Curatolo P, Coppola G, Bartalini G, Di Bartolo R, Scarinci R, Renieri A, Balestri P
Epilepsy Res 2008 Mar;79(1):63-70. Epub 2008 Feb 20 doi: 10.1016/j.eplepsyres.2007.12.011. PMID: 18280703
Dennis NR, Neu RL, Bannerman RM
Am J Med Genet 1978;1(3):271-7. doi: 10.1002/ajmg.1320010303. PMID: 677166

Diagnosis

Marlet L, Alix E, Till M, Raskin-Champion F, Attia J, Boggio D, Sanlaville D, Schluth-Bolard C
Cytogenet Genome Res 2017;153(3):117-124. Epub 2017 Dec 22 doi: 10.1159/000485392. PMID: 29268249
Gruchy N, Jacquemont ML, Lyonnet S, Labrune P, El Kamel I, Siffroi JP, Portnoï MF
Am J Med Genet A 2007 Oct 15;143A(20):2417-22. doi: 10.1002/ajmg.a.31931. PMID: 17853488
Thangavelu M, Frolich G, Rogers D
Am J Med Genet A 2004 Jan 15;124A(2):170-2. doi: 10.1002/ajmg.a.20322. PMID: 14699616
Yuksel A, Seven M, Karaman B, Yilmaz S, Deviren A, Hacihanefioglu S, Basaran S
Clin Dysmorphol 2002 Jan;11(1):39-42. doi: 10.1097/00019605-200201000-00008. PMID: 11822704
Fryns JP, Kleczkowska A, Kenis H, Decock P, Van den Berghe H
Ann Genet 1989;32(3):174-6. PMID: 2573314

Prognosis

Yuksel A, Seven M, Karaman B, Yilmaz S, Deviren A, Hacihanefioglu S, Basaran S
Clin Dysmorphol 2002 Jan;11(1):39-42. doi: 10.1097/00019605-200201000-00008. PMID: 11822704
Dennis NR, Neu RL, Bannerman RM
Am J Med Genet 1978;1(3):271-7. doi: 10.1002/ajmg.1320010303. PMID: 677166

Clinical prediction guides

Manolakos E, Vetro A, Papadopoulou E, Kefalas K, Lagou M, Thomaidis L, Peitsidis P, Sifakis S, Divane A, Ziegler M, Liehr T, Zuffardi O, Papoulidis I
Cytogenet Genome Res 2013;140(1):12-20. Epub 2013 May 4 doi: 10.1159/000350868. PMID: 23652918
Grosso S, Pucci L, Curatolo P, Coppola G, Bartalini G, Di Bartolo R, Scarinci R, Renieri A, Balestri P
Epilepsy Res 2008 Mar;79(1):63-70. Epub 2008 Feb 20 doi: 10.1016/j.eplepsyres.2007.12.011. PMID: 18280703
Gruchy N, Jacquemont ML, Lyonnet S, Labrune P, El Kamel I, Siffroi JP, Portnoï MF
Am J Med Genet A 2007 Oct 15;143A(20):2417-22. doi: 10.1002/ajmg.a.31931. PMID: 17853488
Thangavelu M, Frolich G, Rogers D
Am J Med Genet A 2004 Jan 15;124A(2):170-2. doi: 10.1002/ajmg.a.20322. PMID: 14699616
Heathcote JG, Sholdice J, Walton JC, Willis NR, Sergovich FR
Can J Ophthalmol 1991 Feb;26(1):35-43. PMID: 2013025

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