References

  1. Leung WC, Lau ET, Lao TT, Tang MHY. Rapid aneuploidy testing, traditional karyotyping, or both, in prenatal diagnosis. HKJGOM. 2005;5(1):33–39.
  2. Data on file. PerkinElmer, Inc.
  3. Gardener RJM, Sutherland GR, eds. Chromosome Abnormalities and Genetic Counseling. 3rd ed. New York, NY: Oxford University Press; 2004:chapters 15, 16, 17, 25.
  4. Ballif BC, Theisen A, Coppinger J, et al. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet. 2008;1:8.
  5. Grisart B, Willatt L, Destrée A, et al. 17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction. J Med Genet. 2009;46(8):524–530.
  6. Harada N, Visser R, Dawson A, et al. A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome. J Hum Genet. 2004;49(8):440–444.
  7. Moeschler JB, Shevell M; American Academy of Pediatrics Committee on Genetics. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics. 117(6):2304–2316.
  8. Roselló M, Ferrer-Bolufer I, Monfort S, et al. Prenatal study of common submicroscopic “genomic disorders” using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester. Eur J Med Genet. 2010;53(2):76–79.
  9. Steffenburg S, Gillberg CL, Steffenburg U, Kyllerman M. Autism in Angelman syndrome: a population-based study. Pediatr Neurol. 1996;14(2):131–136.
  10. Mainardi PC. Cri du Chat syndrome. Orphanet J Rare Dis. 2006;1:33.
  11. Botto LD, May K, Fernhoff PM, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics. 2003;112(1 Pt 1):101–107.
  12. Mattina T, Perrotta CS, Grossfeld P. Jacobsen syndrome. Orphanet J Rare Dis. 2009;4:9.
  13. Bruno DL, Anderlid BM, Lindstrand A, et al. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J Med Genet. 2010;47(5):299–311.
  14. Cardoso C, Leventer RJ, Ward HL, et al. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet. 2003;72(4):918–930.
  15. Mei D, Lewis R, Parrini E, et al. High frequency of genomic deletions—and a duplication—in the LIS1 gene in lissencephaly: implications for molecular diagnosis. J Med Genet. 2008;45(6):355–361.
  16. National Institutes of Health. GENEReviews. Prader-Willi Syndrome. Available at http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pws. Accessed September 21, 2010.
  17. Baud O, Cormier-Daire V, Lyonnet S, Desjardins L, Turleau C, Doz F. Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clin Genet. 1999;55(6):478–482.
  18. Cowell JK, Hungerford J, Rutland P, Jay M. Genetic and cytogenetic analysis of patients showing reduced esterase-D levels and mental retardation from a survey of 500 individuals with retinoblastoma. Ophthalmic Paediatr Genet. 1989;10(2):117–127.
  19. Girirajan S, Truong HT, Blanchard CL, Elsea SH. A functional network module for Smith-Magenis syndrome. Clin Genet. 2009;75(4):364–374.
  20. Greenberg F, Guzzetta V, Montes de Oca-Luna R, et al. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet. 1991;49(6):1207–1218.
  21. National Institutes of Health. GENEReviews. Sotos Syndrome. Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sotos. Accessed September 21, 2010.
  22. National Institutes of Health. GENEReviews. Williams Syndrome. Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=williams. Accessed September 21, 2010.
  23. Bayés M, Magano LF, Rivera N, Flores R, Pérez Jurado LA. Mutational mechanisms of Williams-Beuren syndrome deletions. Am J Hum Genet. 2003;73(1):131–151.
  24. National Institutes of Health. GENEReviews. Wolf-Hirschhorn Syndrome. Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs. Accessed September 21, 2010.
  25. Heilstedt HA, Ballif BC, Howard LA, et al. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet. 2003;72(5):1200–1212.
  26. National Institutes of Health. GENEReviews. 17q21.31 Microdeletion Syndrome. Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mdel17q21_31. Accessed September 21, 2010.
  27. Koolen DA, Sharp AJ, Hurst JA, et al. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet. 2008;45(11):710–720.
  28. National Institutes of Health. Genetics Home Reference. Trisomy 13. Available at: http://ghr.nlm.nih.gov/condition/trisomy-13. Accessed September 21, 2010.
  29. National Institutes of Health. Genetics Home Reference. Trisomy 18. Available at: http://ghr.nlm.nih.gov/condition/trisomy-18. Accessed September 21, 2010.
  30. National Institutes of Health. Genetics Home Reference. Down syndrome. Available at: http://ghr.nlm.nih.gov/condition/down-syndrome. Accessed September 21, 2010.
  31. National Institutes of Health. Genetics Home Reference. Turner syndrome. Available at: http://ghr.nlm.nih.gov/condition/turner-syndrome. Accessed September 21, 2010.
  32. National Institutes of Health. Genetics Home Reference. Triple X syndrome. Available at: http://ghr.nlm.nih.gov/condition/triple-x-syndrome. Accessed September 21, 2010.
  33. National Institutes of Health. Genetics Home Reference. 47,XYY syndrome. Available at: http://ghr.nlm.nih.gov/condition/47xyy-syndrome. Accessed September 21, 2010.
  34. Potocki L, Bi W, Treadwell-Deering D, et al. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007; 80(4):633-49.
  35. Franco LM, de Ravel T, Graham BH, et al. A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion. Eur J Hum Genet. 2010;18(2):258-61.
  36. Turner DJ, Miretti M, Rajan D, et al. Germline rates of de novo meiotic deletions and duplications causing severalgenomic disorders. Nat Genet. 2008;40(1):90-5.
  37. Somerville MJ, Mervis CB, Young EJ, et al. Severe expressive-language delay related to duplication of the Williams-Beuren locus. N Engl J Med. 2005;353(16):1694-701.
  38. Van der Aa N, Rooms L, Vandeweyer G, et al. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet. 2009;52(2-3):94-100.
  39. Depienne C, Moreno-De-Luca D, Heron D, et al. Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry. 2009 Aug 15;66(4):349-59.
  40. Bi W, Sapir T, Shchelochkov OA, et al. Increased LIS1 expression affects human and mouse brain development. Nat Genet. 2009;41(2):168-77.
  41. Roos L, Jønch AE, Kjaergaard S, et al. A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome. J Med Genet. 2009;46(10):703-10.M.

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