Partial trisomy/tetrasomy of chromosome 5

MedGen UID:: 1841547
•Concept ID:: C5816686
•: Cell or Molecular Dysfunction

Synonyms:	Partial duplication/triplication of chromosome 5; partial duplication/triplication of chromosome 5; partial trisomy/tetrasomy of chromosome 5; partial trisomy/tetrasomy of chromosome type 5

Monarch Initiative:	MONDO:0016925
Orphanet:	ORPHA262211

Recent clinical studies

Etiology

Chromosome-wide aneuploidy study of cultured circulating myeloid progenitor cells from workers occupationally exposed to formaldehyde.

Lan Q, Smith MT, Tang X, Guo W, Vermeulen R, Ji Z, Hu W, Hubbard AE, Shen M, McHale CM, Qiu C, Liu S, Reiss B, Beane-Freeman L, Blair A, Ge Y, Xiong J, Li L, Rappaport SM, Huang H, Rothman N, Zhang L
Carcinogenesis 2015 Jan;36(1):160-7. Epub 2014 Nov 12 doi: 10.1093/carcin/bgu229. PMID: 25391402 Free PMC Article

Increased aneusomy and long arm deletion of chromosomes 5 and 7 in the lymphocytes of Chinese workers exposed to benzene.

Zhang L, Rothman N, Wang Y, Hayes RB, Li G, Dosemeci M, Yin S, Kolachana P, Titenko-Holland N, Smith MT
Carcinogenesis 1998 Nov;19(11):1955-61. doi: 10.1093/carcin/19.11.1955. PMID: 9855009

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Diagnosis

The presence of extra chromosomes leads to genomic instability.

Passerini V, Ozeri-Galai E, de Pagter MS, Donnelly N, Schmalbrock S, Kloosterman WP, Kerem B, Storchová Z
Nat Commun 2016 Feb 15;7:10754. doi: 10.1038/ncomms10754. PMID: 26876972 Free PMC Article

Tetrasomy 5p mosaicism in a boy with delayed growth, hypotonia, minor anomalies, and an additional isochromosome 5p [46,XY/47,XY, + i(5p)].

Sijmons RH, Leegte B, van Lingen RA, de Pater JM, van der Veen AY, del Canho H, Bos C, ten Kate LP, Breed AS
Am J Med Genet 1993 Sep 15;47(4):559-62. doi: 10.1002/ajmg.1320470424. PMID: 7504882

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Therapy

Chromosome-wide aneuploidy study of cultured circulating myeloid progenitor cells from workers occupationally exposed to formaldehyde.

Increased aneusomy and long arm deletion of chromosomes 5 and 7 in the lymphocytes of Chinese workers exposed to benzene.

Zhang L, Rothman N, Wang Y, Hayes RB, Li G, Dosemeci M, Yin S, Kolachana P, Titenko-Holland N, Smith MT
Carcinogenesis 1998 Nov;19(11):1955-61. doi: 10.1093/carcin/19.11.1955. PMID: 9855009

See all (2)