A Girl with 15q Overgrowth Syndrome and dup(15)(q24q26.3) that Included Telomeric Sequences

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참고문헌 (32)

1. Fujimoto A, "Inherited partial duplication of chromosome No. 15", J Med Genet, 11, pp.287~291 (1974)
2. Lacro RV, "Duplication of distal 15q: report of five new cases from two different translocation kindreds", Am J Med Genet, 26, pp.719~728 (1987)
3. Zollino M, "Partial duplication of the long arm of chromosome 15: confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome", Am J Med Genet, 87, pp.391~394 (1999)
4. Faivre L, "Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature", Eur J Hum Genet, 10, pp.699~706 (2002)
5. 김지혜, "15q25.3-qter 부분삼염색체 1예", The Korean Journal of Laboratory Medicine, 29(1), pp.66~70 (2009), 대한진단검사의학회
6. Tatton-Brown K, "15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q", Am J Med Genet A, 149A, pp.147~154 (2009)
7. James PA, "Partial tetrasomy 15 due to a unique inverted triplication of chromosome15q24-q26", Am J Med Genet A, 130A, pp.208~210 (2004)
8. Schluth C, "Intrachromosomal triplication for the distal part of chromosome 15q", Am J Med Genet A, 136A, pp.179~184 (2005)
9. Coco R, "Inherited partial duplication deficiency of chromosome 15 (p12;q22)", J Genet Hum, 26, pp.203~210 (1978)
10. Anneren G, "A boy with proximal trisomy 15 and a male foetus with distal trisomy 15 due to a familial 13p;15q translocation", Clin Genet, 22, pp.16~21 (1982)
11. Yip MY, "A de novo tandem duplication 15 (q21 leads to qter) mosaic", Clin Genet, 22, pp.1~6 (1982)
12. Chandler K, "Partial trisomy 15q: report of a patient and literature review", Genet Couns, 8, pp.91~97 (1997)
13. Abe Y, "A case of de novo distal duplication of chromosome 15", Clin Genet, 63, pp.76~78 (2003)
14. Okubo Y, "Wilson LC, Willatt L, et al. Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene", J Clin Endocrinol Metab, 88, pp.5981~5988 (2003)
15. Faivre L, "Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene", Prenat Diagn, 24, pp.393~395 (2004)
16. Roggenbuck JA, "Duplication of the distal long arm of chromosome 15: report of three new patients and review of the literature", Am J Med Genet A, 126A, pp.398~402 (2004)
17. Bonati MT, "Trisomy 15q25.2-qter in an autistic child: genotype-phenotype correlations", Am J Med Genet A, 133A, pp.184~188 (2005)
18. Kant SG, "Clayton-Smith J, et al. Tall stature and duplication of the insulin-like growth factor I receptor gene", Eur J Med Genet, 50, pp.1~10 (2007)
19. Wechsler D, "WISC-IV Wechsler intelligence scale for children. 4th ed", pp.205~ (2005), Manual Moderno
20. Matute E, "Child neuropsychological assessment" (2007), Manual Moderno-Universidad de Guadalajara-UNAM
21. Lambert N, "AAMR Adaptive behavior scale-school. 2nd ed" (1993), Pro-ed
22. Nagai T, "Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): dosage effect of IGF1R?", Am J Med Genet, 113, pp.173~177 (2002)
23. Gratacos M, "A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders", Cell, 106, pp.367~379 (2001)
24. Zhu G, "Failure to detect DUP25 in lymphoblastoid cells derived from patients with panic disorder and control individuals representing European and American populations", Eur J Hum Genet, 12, pp.505~508 (2004)
25. Genesio R, "Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype", Am J Med Genet A, 128A, pp.422~428 (2004)
26. Sanlaville D, "De novo inverted duplication 9p21pter involving telomeric repeated sequences", Am J Med Genet, 83, pp.125~131 (1999)
27. Kotzot D, "Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications", J Med Genet, 37, pp.281~286 (2000)
28. Petit P, "Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation", Ann Genet, 41, pp.22~26 (1998)
29. Fortin F, "Frequency of chromosome healing and interstitial telomeres in 40 cases of consti tutional abnormalities", Cytogenet Genome Res, 125, pp.176~185 (2009)
30. Pujana MA, "Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26", Genome Res, 11, pp.98~111 (2001)
31. Ambrosini A, "Human subtelomeric duplicon structure and organization", Genome Biol, 8, pp.R151~ (2007)
32. Blouin JL, "Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21", Hum Genet, 88, pp.167~174 (1991)

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