DE NOVO DUPLICATION OF CHROMOSOME 7 (q21.1-q32); CASE REPORT AND REVIEW OF THE LITERATURE
Nasiri F1, Mahjoubi F1,2,*, Babamohammadi G1
*Corresponding Author: Dr. Frouzandeh Mahjoubi, The Blood Transfusion Organization Research Center (IBTO), Hemmat Exp.Way, Next to Milad Tower, Tehran, Iran; P.O. Box 14665-1157; Tel.: +9821-88601501-30; Fax: +9821-88601555; E-mail:Frouz@nigeb.ac.ir
page: 37

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.

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.

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.

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.

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.

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.

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.

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.




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1 The Blood Transfusion Organization Research Center, Tehran, Iran

2 Clinical Genetics Department, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran





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