16p SUBTELOMERIC DUPLICATION WITH VASCULAR ANOMALIES: AN ALBANIAN CASE REPORT AND LITERATURE REVIEW
Babameto-Laku A1,*, Mokini V1, Kuneshka N2, Sallabanda S3, Ylli Z1
*Corresponding Author: Assistant Professor Anila Babameto-Laku, Service of Medical Genetics, University Hospital Center “Mother Teresa”, Faculty of Medicine, Tirana, Albania, Rr. e Dibres 370, Tirana, Albania; Tel.: +(355)-68-20-94-170 (mobile); Fax: +355-4-227-2782; E-mail: laku62@yahoo.com
page: 73

REFERENCES

1. O’Connor TA, Higgins RR. Trisomy 16p in a liveborn infant and review of trisomy 16p. Am J Med Genet. 1992; 42(3): 316-319. 2. Juan JLC, Cigudosa JC, Gomez AO, Almeida MTA, Miranda LG. De novo trisomy 16p. Am J Med Genet. 1997; 68(2): 219-221. 3. Movahhedian HR, Kashani DS, Bull D, Jones KL, Rothman A. Pulmonary hypertension and trisomy 16. Pediatr Cardiol. 1998; 19(2): 187-189. 4. Kokalj-Vokac N, Medica I, Zagorac A, Zagradisnik B, Erjavec A, Gregoric A: A case insertional translocation resulting in partial trisomy 16p. Ann Genet. 2000; 43(3-4): 131-135. 5. Tschernigg M, Petek E, Leonhardtsberger A, Wagner K, Kroisel PM. Terminal tandem duplication of 16p: a case with ‘pure’ partial trisomy (16)(pter p13). Genet Couns. 2002; 13(3): 303-307. 6. Sommer A, Pastore M, Wenger G. Trisomy 16p: a longitudinal profile and photo essay. Am J Med Genet. 2006; 140(2): 174-179. 7. Martin CL, Waggoner DJ, Wong A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai E, Dobyns WB, Ledbetter DH. ‘Molecular rulers’ for calibrating phenotypic effects of telomere imbalance. J Med Genet. 2002; 39(10): 734-740. 8. Leonard C, Huret JL, Imbert MC, Lebouc Y, Selva J, Boulley AM. Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21) (q11;p11) and review of the literature. Am J Med Genet. 1992; 43(3): 621-625. 9. De Ravel T, Aerssens P, Vermeesch JR, Fryns JP. Trisomy of chromosome 16p13.3 e to an unbalanced insertional translocation into chromosome 22q13. Eur J Med Genet. 2005; 48(3): 355-359. 10. Ruiter EM, Koolen DA, Kleefstra T, Nillesen WM, Pfundt R, De Leew N, Hamel BCJ, Brunner HG, Sistermans EA, De Vries BBA. Pure subtelomeric microduplications as a cause of mental retardation. Clin Genet. 2007; 72(4): 362-368. 11. Rochat MK, Riegel M, Schinzel AA. Long-term follow-up of a 26-year-old male with duplication of 16p: clinical report and review. Am J Med Genet. 2007; 143(4): 399-408. 12. Leschot NJ, Denef JJ, Geraedts JPM, Becker- Bloemkolk MJ, Talma A, Bijlsma JB, Vejaal M. Five familial cases with a trisomy 16p syndrome due to translocation. Clin Genet. 1979; 16(3): 205-214. 13. Digilio CM, Bernardini L, Capalbo A, Capolino R, Gagliardi GM, Marino B, Novelli A, Dallapiccola B. 16p Subtelomeric duplication: a clinically recognizable syndrome. Eur J Hum Genet. 2009; 17(9): 1135-1140.



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