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Partial duplication of the short arm of chromosome 16

MedGen UID:
208643
Concept ID:
C0795861
Disease or Syndrome
Synonyms: Chromosome 16, trisomy 16p; Duplication 16p; Trisomy 16p
 
Monarch Initiative: MONDO:0016949
Orphanet: ORPHA262794

Definition

Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. 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 16p 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 16

Recent clinical studies

Etiology

Abgral M, Bouvattier C, Senat MV, Bouchghoul H
J Gynecol Obstet Hum Reprod 2024 Sep;53(7):102781. Epub 2024 Mar 30 doi: 10.1016/j.jogoh.2024.102781. PMID: 38561025
Lonardo F, Perone L, Maioli M, Ciavarella M, Ciccone R, Monica MD, Lombardi C, Forino L, Cantalupo G, Masella L, Scarano F
Am J Med Genet A 2011 Apr;155A(4):769-77. Epub 2011 Mar 17 doi: 10.1002/ajmg.a.33852. PMID: 21416588

Diagnosis

Abgral M, Bouvattier C, Senat MV, Bouchghoul H
J Gynecol Obstet Hum Reprod 2024 Sep;53(7):102781. Epub 2024 Mar 30 doi: 10.1016/j.jogoh.2024.102781. PMID: 38561025
Lonardo F, Perone L, Maioli M, Ciavarella M, Ciccone R, Monica MD, Lombardi C, Forino L, Cantalupo G, Masella L, Scarano F
Am J Med Genet A 2011 Apr;155A(4):769-77. Epub 2011 Mar 17 doi: 10.1002/ajmg.a.33852. PMID: 21416588

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