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Human Cytogenetics Case Report

Duplication dup(1)(q41q44) defined by fluorescence in situ hybridization: delineation of the ‘trisomy 1q42→qter syndrome’

Coccé M.C.a · Villa O.b, c · Obregon M.G.a · Salido M.b · Barreiro C.a · Solé F.b · Gallego M.S.a

Author affiliations

aLaboratorio de Citogenética, Servicio de Genética, Hospital de Pediatría Prof. Dr. J.P. Garrahan, Buenos Aires (Argentina) bLaboratorio de Citogenética y Biología Molecular, Servicio de Patología, Hospital del Mar, Barcelona cUnitat de Genética, Departament de Ciencies Expermentals i de la Salut, Universitat Pompeu Fabra, Barcelona (Spain)

Related Articles for ""

Cytogenet Genome Res 118:84–86 (2007)

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Article / Publication Details

First-Page Preview
Abstract of Human Cytogenetics Case Report

Published online: September 27, 2007
Issue release date: September 2007

Number of Print Pages: 3
Number of Figures: 2
Number of Tables: 1

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: https://www.karger.com/CGR

Abstract

We report on a novel case of pure partial tandem duplication 1q42q43 confirmed by fluorescence in situ hybridization (FISH). We compare the manifestations of our patient with similar cases previously reported. We conclude that the most common clinical manifestations of trisomy 1q42qter are prenatal and postnatal growth retardation, relative macrocephaly, triangular face, prominent forehead, broad nasal bridge, abnormal philtrum, micro/retrognathia, cardiac defects and mental retardation. We would like to emphasize the importance of the FISH technique in the identification of the duplicated segment.

© 2007 S. Karger AG, Basel


References

  1. Bartsch C, Aslan M, Köhler J, Miny P, Horst J, et al: Duplication dup(1)(q32q44) detected by Comparative Genomic Hybridization (CGH): further delineation of trisomies 1q. Fetal Diagn Ther 16:265–273 (2001).
  2. Bortotto L, Piovan E, Furlan R, Rivera H, Zuffardi O: Chromosome imbalance, normal phenotype, and imprinting. J Med Genet 27:582–587 (1990).
  3. Chia NL, Bousfield LR, Poon CCS, Trudinger BJ: Trisomy (1q)(q42→qter): Confirmation of a syndrome. Clin Genet 34:224–229 (1988).
  4. De Brasi D, Rossi E, Giglio S, D’Agostino A, Titomanlino L, et al: Inv dupdel(1)(pter→q44::q44→q42:) with the classical phenotype of trisomy 1q42-qter. Am J Med Genet 104:127–130 (2001).
  5. ISCN 2005: An International System for Human Cytogenetic Nomenclature, Shaffer LG, Tommerup N (eds) (S. Karger, Basel 2005).
  6. Le Goft L, Hadjadj E, Denis D: Anomalies ophtalmologiques associées a une duplication d’un segment distal du bras long du chromosome 1. J Fr Ophtalmol 25:388–392 (2002).
    External Resources
  7. Machlitt A, Kuepferling P, Bommer C, Koerner H, Chaoui R: Prenatal diagnosis of trisomy 1q21-qter: case report and review of literature. Am J Med Genet 134A:207–211 (2005).
    External Resources
  8. Morava E, Jackson KE, Tsien F, Marble MR: Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies. Genet Couns 15:449–453 (2004).
  9. Polityko A, Starke H, Rumyantseva N, Claussen U, Liehr T, Raskin S: Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding. Cytogenet Genome Res 111:171–174 (2005).
  10. Ramesh KH, Wei D, Cheng L, Soni S, Green N, Cannizzaro LA: Duplication 1q32q42 syndrome in a child with α-thalassemia trait. Am J Hum Genet 67 (Suppl 2):125, A636 (2000).
  11. Van Haelst M, Eussen H, Visscher F, Ruijter J, Drop S, et al: Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome. J Med Genet 39:582–585 (2002).
  12. Verschuuren-Bemelmans CC, Leegte B, Hodenius TM, Cobben JM: Trisomy 1q42→qter in a sister and brother: further delineation of the ‘trisomy 1q42→qter syndrome’. Am J Med Genet 58:83–86 (1995).

Article / Publication Details

First-Page Preview
Abstract of Human Cytogenetics Case Report

Published online: September 27, 2007
Issue release date: September 2007

Number of Print Pages: 3
Number of Figures: 2
Number of Tables: 1

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: https://www.karger.com/CGR


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