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Partial duplication of the short arm of chromosome 7

MedGen UID:
162875
Concept ID:
C0795820
Disease or Syndrome
Synonyms: Chromosome 7, trisomy 7p; Duplication 7p; Trisomy 7p
SNOMED CT: 7p partial trisomy (82751009)
 
Monarch Initiative: MONDO:0016944
Orphanet: ORPHA262749

Definition

Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. 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 7p 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 7

Recent clinical studies

Etiology

Alfonsi M, Palka C, Morizio E, Gatta V, Franchi S, Guanciali Franchi P, Zori R, Calabrese G, Palka G, Chiarelli F
Cytogenet Genome Res 2012;136(1):1-5. Epub 2011 Nov 12 doi: 10.1159/000334111. PMID: 22086126

Diagnosis

Leach NT, Chudoba I, Stewart TV, Holmes LB, Weremowicz S
Am J Med Genet A 2007 Jul 1;143A(13):1489-93. doi: 10.1002/ajmg.a.31794. PMID: 17551927
Wilde JR, Teele RL, Aftimos S
Pediatr Radiol 2006 Aug;36(8):863-5. Epub 2006 Jun 7 doi: 10.1007/s00247-006-0179-1. PMID: 16758186
Reish O, Berry SA, Dewald G, King RA
Am J Med Genet 1996 Jan 2;61(1):21-5. doi: 10.1002/(SICI)1096-8628(19960102)61:1<21::AID-AJMG4>3.0.CO;2-#. PMID: 8741912

Therapy

Mergenthaler S, Sharp A, Ranke MB, Kalscheuer VM, Wollmann HA, Eggermann T
Genet Test 2001 Fall;5(3):261-6. doi: 10.1089/10906570152742335. PMID: 11788094

Prognosis

Wilde JR, Teele RL, Aftimos S
Pediatr Radiol 2006 Aug;36(8):863-5. Epub 2006 Jun 7 doi: 10.1007/s00247-006-0179-1. PMID: 16758186
Reish O, Berry SA, Dewald G, King RA
Am J Med Genet 1996 Jan 2;61(1):21-5. doi: 10.1002/(SICI)1096-8628(19960102)61:1<21::AID-AJMG4>3.0.CO;2-#. PMID: 8741912

Clinical prediction guides

Scelsa B, Bedeschi FM, Guerneri S, Lalatta F, Introvini P
J Child Neurol 2008 May;23(5):572-9. Epub 2007 Dec 3 doi: 10.1177/0883073807309776. PMID: 18056692
Leach NT, Chudoba I, Stewart TV, Holmes LB, Weremowicz S
Am J Med Genet A 2007 Jul 1;143A(13):1489-93. doi: 10.1002/ajmg.a.31794. PMID: 17551927
Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW
Genomics 2002 Feb;79(2):186-96. doi: 10.1006/geno.2002.6695. PMID: 11829489
Reish O, Berry SA, Dewald G, King RA
Am J Med Genet 1996 Jan 2;61(1):21-5. doi: 10.1002/(SICI)1096-8628(19960102)61:1<21::AID-AJMG4>3.0.CO;2-#. PMID: 8741912

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