RING AUTOSOMES: SOME UNEXPECTED FINDINGS
Caba L1,*, Rusu C1,2, Plăiaşu V3, Gug G4,5, Grămescu M1, Bujoran C2, Ochiană D3, Voloşciuc M2, Popescu R1, Braha E1,2, Pânzaru M1,2, Butnariu L1,2, Sireteanu A1, Covic M1, Gorduza EV1
*Corresponding Author: Dr. Lavinia Caba, “Grigore T. Popa” University of Medicine and Pharmacy Iasi, Department of Medical Genetics, 16 Universitatii str., Iasi, 700115, Romania; Tel.: +40724962671; Email: lavinia_zanet@yahoo.com
page: 35

REFERENCES

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Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies, Am J Med Genet. 2002; 111(1): 61-67. 34. Gorduza E.V, Bujoran C, Pădurariu L, Grămescu M, Ivanov I, Martiniuc V, et al. Presentation of a new case with a mosaic ring chromosome 13: 46,XY,r(13)(p11.2-q34)/45,XY,-13 and a review of literature. RJRD. 2010; 1(1): 17-23. 35. Hoo JJ, Stein CK. “Zwilling” versus “Tai Chi” configuration of double-sized ring chromosome. Am J Med Genet A. 2007; 143(8): 903-905. 36. Liehr T. 2012. Small supernumerary marker chromosomes. http://www.fish.uniklinikumjena. de/sSMC. html. [accessed 16 July 2012]. 37. Lo-Castro A, El-Malhany N, Galasso C, Verrotti A, Nardone AM, Postorivo D, et al. De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems. Eur J Med Genet. 2011; 54(3): 329-332. 38. Feenstra I, Vissers LELM, Orsel M, van Kessel AG, Brunner HG, Veltman JA, et al. Genotypephenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. Am J Med Genet A. 2007; 143A(16): 1858-1867. 39. McGinniss MJ, Kazazian HH, Stetten G, Petersen MB, Boman H, Engel E, et al. Mechanisms of ring chromosome formation in 11 cases of human chromosome 21. Am J Hum Genet. 1992; 50(1): 15-28. 40. de Grouchy J, Turleau C. Syndrome r(21). Clinical Atlas of Human Chromosomes. New York: John Wiley and Sons. 1984: 350-355.



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