PHENOTYPIC VARIATIONS IN WOLFHIRSCHHORN SYNDROME
Sukarova-Angelovska E, Kocova M, Sabolich V, Palcevska S, Angelkova N
*Corresponding Author: Doz. Elena Sukarova-Angelovska, Pediatric Clinic, Medical Faculty, Vodnjanska 17, 1000 Skopje, Republic of Macedonia. Tel.: +389-70358582. Fax: +389-22439301. E-mail: Esukarova@doctor.com
page: 23

REFERENCES

1. Cooper H, Hirschhorn K. Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion. Hum Chrom Newsl. 1961; 4(14): 14-16. 2. Hirschhorn K, Cooper HL, Firschein IL. Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Humangenetik. 1965; 1(5): 479-482. 3. Wolf H, Porsch R, Schroeter R, Baitsch H. Defizienz an den kurzen Arm eines Chromosoms nr. 4. Humangenetik. 1965; 1(5): 397-413. 4. Bergemann A, Cole F, Hircshhorn K. The etiology of Wolf-Hirschorn syndrome. Trends Genet. 2005; 21(3): 188-195. 5. Battaglia D, Zampino G, Zollino M, Mariotti P, Acquafondata C, Lettori D, et al. Electroclinical patterns and evolution of epilepsy in the 4p- syndrome. Epilepsia. 2003; 44(9):1183-1190. 6. Fang YY, Bain S, Haan EA, Eyre HJ, MacDonald M, Wright TJ, et al. High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome. Am J Med Genet. 1997; 71(4): 453-457. 7. Wright TJ, Ricke DO, Denison K, Abmayr S, Cotter PD, Hirschhorn K, et al. A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Hum Mol Genet. 1997; 6(2): 317-324. 8. Antonius T, Draaisma J, Levtchenko E, Knoers N, Renier W, van Ravenswaaij C. Growth charts for Wolf-Hirschhorn syndrome (0-4 years of age). Eur J Pediatr. 2008; 167(7): 807-810. 9. Shannon NL, Maltby EL, Rigby AS, Quarrell OWJ. An epidemiological study of Wolf- Hirschhorn syndrome: life expectancy and cause of mortality. J Med Genet. 2001; 38(10): 674-679. 10. Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, et al. Mapping the Wolf- Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet. 2003; 72(3): 590-597. 11. Zollino M, Lecce R, Selicorni A, Murdolo M, Mancuso I, Marang G, et al. A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf- Hirschhorn syndrome. Eur J Hum Genet. 2004; 12(10): 797-804. 12. Judge CG, Garson OM, Pitt DB, Sutherland GR. A girl with Wolf-Hirschorn syndrome and mosaicism 46,XX-46,XX,4p-. J Ment Defic Res. 1974; 18(0):79-85. 13. Vockley J, Inserra JA, Breg WR, Yang-Feng TL. “Pseudomosaicism” for 4p- in amniotic fluid cell culture proven to be true mosaicism after birth. Am J Med Genet. 1991; ;39(1): 81-83. 14. Fryns JP, Smeets E, Devriendt K, Petit P. Wolf- Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother. Ann Genet. 1998; 41(2): 73-76. 15. Tupler R, Bortotto L, Bühler EM, Alkan M, Malik NJ, Bösch-Al Jadooa N, et al. Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome. J Med Genet. 1992; 29(1):53-55. 16. Altherr MR, Bengtsson U, Elder FF, Ledbetter DH, Wasmuth JJ, McDonald ME, et al. Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am J Hum Genet. 1991; 49(6): 1235-42. 17. Kant S, van Haeringen A, Bakker E, Stec I, Donnai D, Mollevanger P, et al. Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p16.3. J Med Genet. 1997; 34(7): 569-572. 18. Stec I, Wright TJ, van Ommen GJ, de Boer PA, van Haeringen A, Moorman AF, et al. WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf- Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. Hum Mol Genet. 1998; 7(7): 1071-1082. 19. Dimmer KS, Navoni F, Casarin A, Trevisson E, Endele S, Winterpacht A, et al. LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability. Hum Mol Genet. 2008; 17(2): 201-214. 20. Lockwood DH, Johnston DA, Riccardi VM, Zimmerman SO. The use of subchromosomelength unique band sequences in the analysis of prophase chromosomes. Am J Hum Genet. 1988; 43(6): 934-947. 21. Liehr T, Claussen U. FISH on chromosome preparations of peripheral blood. In: Rautenstrauss BW, Liehr T, Eds. FISH Technology. Berlin, Germany: Springer. 2002: 73-81. 22. Flipsen-ten Berg K, van Hasselt PM, Eleveld MJ, van der Wijst SE, Hol FA, de Vroede MA, et al. Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome. Eur J Hum Genet. 2007; 15(11): 1132-1138. 23. Estabrooks LL, Lamb AN, Aylsworth AS, Callanan NP, Rao KW. Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome. J Med Genet. 1994; 31(2): 103-107. 24. Maas NMC, van Buggenhout G, Hannes F, Thienpont B, Sanlaville D, Kok K, et al. Genotype- phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). J Med Genet. 2008; 45(2): 71-80. 25. Wieczorek D, Krause M, Majewski F, Albrecht B, Horn D, Riess O, et al. Effect of the size of the deletion and clinical manifestation in Wolf- Hirschhorn syndrome: analysis of 13 patients with a de novo deletion. Eur J Hum Genet. 2000; 8(7): 519-526.



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