UNIPARENTAL DISOMY (UPD): A CONSEQUENCE OF NON-DISJUNCTION AND THE IMPLICATIONS IN PRENATAL DIAGNOSIS
Velissariou V*
*Corresponding Author: Dr. Voula Velissariou, Cytogenetics Laboratory, Department of Genetics and Molecular Biology, Mitera Hospital, Erythrou Stavrou 7, Maroussi, Athens 11523, Greece; Tel.: +30-210-686-9869; Fax: +30-210-689-9476; E-mail: voulavel@ hol.gr
page: 55

REFERENCES

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2. Nicholls RD, Knoll JHM, Butler MG, Karam S, Lalande M. Genomic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 1989; 342: 281-285.

3. Malcolm S, Clayton-Smith J, Nichols M, Robb S, Webb T, Armour JAL, Jeffreys AJ, Pembrey ME. Uni­parental paternal disomy in Angelman’s syndrome. The Lancet 1991; 337: 694-697.

4. Hanel ML, Wevrick R. The role of genomic im­printing in human Developmental disorders: lessons from Prader-Willi syndrome. Clin Genet 2001; 59: 156-164.

5. Kotzot D. Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet 1999; 82: 265-274.

6. Cassidy SB, Lai LW, Erickson RP, Magnuson L, Thomas E, Gendron R, Herrmann J. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am J Hum Genet 1992; 51: 701-708.

7. Silverstein S, Lerer I, Sagi M, Frumkin A, Ben-Neriah Z, Abeliovich D. Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate. Prenat Diagn 2002; 22: 649-651.

8. Lawler SD, Fisher RA, Dent J: A prospective ge­netic study of complete and partial hydatidiform moles. Am J Obstet Gynecol 1991; 164: 1270-1277.

9. Henry I, Bonaiti-Pellie C, Chehensse V, Beldjord C, Schwartz C, Utermann G, Julien C. Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event. Eur J Hum Genet 1993; 1: 19-29.

10. Webb A, Beard J, Wright C, Robson S, Wolsten­holme J, Goodship J. A case of paternal uniparental di­somy for chromosome 11. Prenat Diagn 1995; 15: 773-777.

11. Velissariou V, Antoniadi T, Gyftodimou J, Bakou K, Grigoriadou M, Christopoulou S, Hatzipouliou A, Donoghue J, Karatzis P, Katsarou E, Petersen M. Mater­nal uniparental isodisomy 20 in a fetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis. Eur J Hum Genet 2002; 10: 694-698.

12. Kalousek DK, Barrett I. Genomic imprinting re­lated to prenatal diagnosis. Prenat Diagn 1994; 14: 1191-1201.

13. Reish O, Wolach B, Amiel A, Kedar I, Dolfin T, Fejgin M. Dilemma of trisomy 20 mosaicism detected prenatally: is it an innocent finding? Am J Med Genet 1998; 77: 72-75.

14. Salafsky IS, MacGregor SN, Claussen U, Eggeling F. Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20. Prenat Diagn 2001; 21: 860-863.

15. Berend SA, Horwitz J, MacCaskill C, Shaffer LG. Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromo­somes. Am J Hum Genet 2000; 66: 1787-1793.

16. James RS, Temple IK, Dennis NR, Crolla JA. A search for uniparental disomy in carriers of supernumerary marker chromosomes. Eur J Hum Genet 1995; 3: 21-26.





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