References
- Leung WC, Lau ET, Lao TT, Tang MHY. Rapid aneuploidy testing, traditional karyotyping, or both, in prenatal diagnosis. HKJGOM. 2005;5(1):33–39.
- Data on file. PerkinElmer, Inc.
- Gardener RJM, Sutherland GR, eds. Chromosome Abnormalities and Genetic Counseling. 3rd ed. New York, NY: Oxford University Press; 2004:chapters 15, 16, 17, 25.
- 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.
- 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.
- 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.
- 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.
- 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.
- Steffenburg S, Gillberg CL, Steffenburg U, Kyllerman M. Autism in Angelman syndrome: a population-based study. Pediatr Neurol. 1996;14(2):131–136.
- Mainardi PC. Cri du Chat syndrome. Orphanet J Rare Dis. 2006;1:33.
- 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.
- Mattina T, Perrotta CS, Grossfeld P. Jacobsen syndrome. Orphanet J Rare Dis. 2009;4:9.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- Girirajan S, Truong HT, Blanchard CL, Elsea SH. A functional network module for Smith-Magenis syndrome. Clin Genet. 2009;75(4):364–374.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- National Institutes of Health. Genetics Home Reference. Trisomy 13. Available at: http://ghr.nlm.nih.gov/condition/trisomy-13. Accessed September 21, 2010.
- National Institutes of Health. Genetics Home Reference. Trisomy 18. Available at: http://ghr.nlm.nih.gov/condition/trisomy-18. Accessed September 21, 2010.
- National Institutes of Health. Genetics Home Reference. Down syndrome. Available at: http://ghr.nlm.nih.gov/condition/down-syndrome. Accessed September 21, 2010.
- National Institutes of Health. Genetics Home Reference. Turner syndrome. Available at: http://ghr.nlm.nih.gov/condition/turner-syndrome. Accessed September 21, 2010.
- 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.
- National Institutes of Health. Genetics Home Reference. 47,XYY syndrome. Available at: http://ghr.nlm.nih.gov/condition/47xyy-syndrome. Accessed September 21, 2010.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- Bi W, Sapir T, Shchelochkov OA, et al. Increased LIS1 expression affects human and mouse brain development. Nat Genet. 2009;41(2):168-77.
- 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.
