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De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the Literature Cover

De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the Literature

By: F Nasiri,  F Mahjoubi and  G Babamohammadi  
Open Access
|Aug 2010

References

  1. Scelsa B, Bedeschi FM, Guerneri S, Lalatta F, Introvini P. Partial Trisomy of 7q: case report and literature review. J Child Neurol 2008; 23(5): 572-579.10.1177/0883073807309776
  2. Couzin DA, Haites N, Watt JL, Johnston AW. Partial trisomy 7 (q32-qter) syndrome in two children. J Med Genet 1986; 23(5): 461-465.10.1136/jmg.23.5.461
  3. Lukusa T, Fryns JP. Syndrome of facial, oral, and digital anomalies due to 7q21.2→q22.1 duplication. Am J Med Genet 1998; 80(5): 454-458.10.1002/(SICI)1096-8628(19981228)80:5<;454::AID-AJMG4>3.0.CO;2-O
  4. Lukusa T, Van Buggenhout G, Devriendt K, Fryns JP. Pericentric inversion with partial 7(q35→qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient. Genet Couns. 2002; 13(1): 1-10.
  5. Romain DR, Cairney H, Stewart D, Columbano-Green LM, Garry M, Parslow MI, Parfitt R, Smythe RH, Chapman CJ. Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7. J Med Genet 1990; 27(2): 109-113.10.1136/jmg.27.2.109
  6. Goodman BK, Stone K, Coddett JM, Cargile CB, Gurewitsch ED, Blakemore KJ, Stetten G. Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat. Prenat Diagn 1999; 19(12): 1150-1156.10.1002/(SICI)1097-0223(199912)19:12<;1150::AID-PD733>3.0.CO;2-0
  7. Courtens W, Vroman S, Vandenhove J, Wiedemann U, Schinzel A. Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7). Prenat Diagn 2001; 21(8): 642-648.10.1002/pd.30
  8. Morava E, Bartsch O, Czakó M, Frensel A, Kalscheuer V, Kárteszi J, Kosztolányi G. Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia. Clin Dysmorphol 2003; 12(2): 123-127.10.1097/00019605-200304000-00010
  9. Morales C, Madrigal I, Esqué T, de la Fuente JE, Rodríguez JM, Margarit E, Soler A, Sánchez A. Duplication/deletion mosaicism of the 7q(21.1→31.3) region. Am J Med Genet A 2007; 143(2): 179-183.10.1002/ajmg.a.31570
Language: English
Page range: 35 - 37
Published on: Aug 25, 2010
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2010 F Nasiri, F Mahjoubi, G Babamohammadi, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Volume 13 (2010): Issue 1 (June 2010)