Advances in whole-genome genetic testing: From chromosomes to microarrays

Current Problems in Pediatric and Adolescent Health Care

Volumn 42, Issue 3, 2012, Pages 47-73

  Crotwell, Patricia L ^a   Hoyme, H Eugene ^b  

^a UNIVERSITY OF SOUTH DAKOTA   (United States)

^b UNIVERSITY OF SOUTH DAKOTA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

REPETITIVE DNA;

ACROCEPHALOSYNDACTYLY; ALAGILLE SYNDROME; ANEUPLOIDY; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CAT CRY SYNDROME; CENTROMERE; CHONDRODYSPLASIA; CHROMOSOME; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; CYSTIC LYMPHANGIOMA; DIGEORGE SYNDROME; DIPLOIDY; DOWN SYNDROME; DUCHENNE MUSCULAR DYSTROPHY; EDWARDS SYNDROME; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GENETIC SCREENING; GONADAL DYSGENESIS; GYNECOMASTIA; HAPPY PUPPET SYNDROME; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; KALLMANN SYNDROME; KARYOTYPE 45,X; KARYOTYPE 46,XX; KARYOTYPE 47,XXX; KARYOTYPE 47,XXY; KLINEFELTER SYNDROME; LIFE EXPECTANCY; MICROARRAY ANALYSIS; MILLER DIEKER SYNDROME; PATAU SYNDROME; PRADER WILLI SYNDROME; RECURRENCE RISK; ROBERTSONIAN CHROMOSOME TRANSLOCATION; RUBENSTEIN TAYBI SYNDROME; SEX DETERMINATION PROCESS; SMITH MAGENIS SYNDROME; TRISOMY 21; TURNER SYNDROME; WAGR SYNDROME; WILLIAMS BEUREN SYNDROME; WOLF HIRSCHHORN SYNDROME; Y CHROMOSOME;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 9; COMPARATIVE GENOMIC HYBRIDIZATION; DOWN SYNDROME; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOSAICISM; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; TRISOMY; UNIPARENTAL DISOMY;

EID: 84856887167     PISSN: 15385442     EISSN: 15383199     Source Type: Journal    
DOI: 10.1016/j.cppeds.2011.10.004     Document Type: Article

References (130)

1. J.H. Tjio, A. Levan The chromosome number of man Hereditas 42 1956 1 6
2. A.C. Tsai, C.J. Dossett, C.S. Walton, A.E. Cramer, P.A. Eng, B.A. Nowakowska Exon deletions of the EP300 and CREBBP genes in two children with RubinsteinTaybi syndrome detected by aCGH Eur J Hum Genet 19 2011 43 49
3. L. Unger, R.V. Blystone Paradigm lost: the human chromosome story Bioscene 22 1996 3 9
4. H. de Winiwarter tudes sur la spermatogense humaine: I. Cellule de Sertoli: II. Htrochromome et mitoses de l'epithelium seminal Arch Biol 27 1912 91 189
5. T.S. Painter The Y-chromosome in mammals Science 53 1921 503 504
6. H.L. Wieman The chromosomes of human spermatocytes Am J Anat 21 1917 1 21
7. T.S. Painter Further observations on the sex chromosomes of mammals Science 58 1923 247 248
8. C.B. Davenport Mendelism in man Proc 6th Int Congr Genet 6 1932 135 140
9. T.S. Painter Studies in mammalian spermatogenesis: II. The spermatogenesis of man J Exp Zool 37 1923 291 336
10. J. Belling The behavior of homologous chromosomes in a triploid Canna Proc Natl Acad Sci USA 7 1921 197 201
11. R.G. Harrison Observations on the living developing nerve fiber Proc Soc Exp Biol, NY 4 1907 140 143
12. W. Roux Beitrge zur entwickelungsmechanik des embryo, Number 1 (Einleitung) Z Biol 21 1885 411 524
13. A. Carrel, M. Burrows Cultivation of adult tissues and organs outside of the body JAMA 55 1910 1379 1381
14. T.C. Hsu Mammalian chromosomes in vitro. I. The karyotype of man J Hered 43 1952 167 172
15. E.H. Slifer Insect development: VI The behavior of grasshopper embryos in anisotonic, balanced salt solution J Exp Zool 67 1943 137 157
16. Chicago Conference Standardization in Human Cytogenetics Birth Defects: Original Article Series 1966 National Foundation New York
17. Cytogenetics community discussion on the naming of the chromosome arms American Cytogenetics Forum List 2011
18. Denver Conference A proposed standard system of nomenclature of human mitotic chromosomes Lancet 1 1960 1063 1065
19. J. Lejeune, M. Gautier, R. Turpin Etude des chromosomes somatiques de neuf enfant mongoliens Compt Rend 248 1959 1721 1722
20. J.L. Down Observations on an ethnic classification of idiots London Hospital Rep 3 1866 259 262
21. I. Ahmed, T. Ghafoor, N.A. Samore, M.N. Chattha Down syndrome: Clinical and cytogenetic analysis J Coll Physicians Surg Pak 15 2005 426 429 (Pubitemid 41131448)
22. L. O'Keefe Caring for children with Down syndrome: Pediatricians should strive for early diagnosis; monitor for medical, developmental conditions AAP News 21 2002 290
23. American Academy of Pediatrics Health supervision for children with Down syndrome Pediatrics 107 2001 442 449
24. G.L. Wells, S.E. Barker, S.C. Finley, E.V. Colvin, W.H. Finley Congenital heart disease in infants with Down's syndrome South Med J 87 1994 724 727 (Pubitemid 24218226)
25. G. Laws Reading as an intervention for vocabulary, short-term memory and speech development of school-aged children with Down syndrome: A review of the evidence Adv Child Dev Behav 39 2010 131 162
26. R.J. McGrath, D.J. Laflamme, A.P. Schwartz, M. Stransky, J.B. Moeschler Access to genetic counseling for children with autism, Down syndrome, and intellectual disabilities Pediatrics 124 Suppl 4 2009 S443 S449
27. C.E. Ford, K.W. Jones, P.E. Polani, J.C. De Almeida, J.H. Briggs A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome) Lancet 1 1959 711 713
28. P.A. Jacobs, J.A. Strong A case of human intersexuality having a possible XXY sex-determining mechanism Nature 183 1959 302 303
29. H.J. Klinefelter, E.J. Reifenstein, F. Albright Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone J Clin Endocrinol Metab 2 1942 615 624
30. P.A. Jacobs, A.G. Baikie, W.M. Brown, T.N. Macgregor, N. Maclean, D.G. Harnden Evidence for the existence of the human "super female" Lancet 2 1959 423 425
31. O. Ullrich ber typische Kombinationsbilder multipler Abartungen Z Kinderheilk 49 1930 271 276
32. H. Turner A syndrome of infantilism, congenital webbed neck, and cubitus valgus Endocrinology 23 1938 566 574
33. A. Schinzel Catalogue of Unbalanced Chromosome Aberrations in Man 2nd Edition 2001 Walter de Gruyter New York
34. C.A. Bondy Turner Syndrome Study Group Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group J Clin Endocrinol Metab 92 2007 10 25 (Pubitemid 46067503)
35. B.H. Doswell, J. Visootsak, A.N. Brady, J.M. Graham Jr Turner syndrome: An update and review for the primary pediatrician Clin Pediatr 45 2006 301 313 (Pubitemid 43788322)
36. W.O. Brant, A. Rajimwale, M.A. Lovell, S.H. Travers, P.D. Furness 3rd, M. Sorensen Gonadoblastoma and Turner syndrome J Urol 175 2006 1858 1860
37. A. Bojesen, C.H. Gravholt Klinefelter syndrome in clinical practice Nat Clin Pract Urol 4 2007 192 204 (Pubitemid 46567152)
38. J. Visootsak, J.M. Graham Jr Klinefelter syndrome and other sex chromosomal aneuploidies Orphanet J Rare Dis 1 2006 42
39. A. Fruhmesser, D. Kotzot Chromosomal variants in Klinefelter syndrome Sex Dev 5 2011 109 123
40. A.J. Swerdlow, M.J. Schoemaker, C.D. Higgins, A.F. Wright, P.A. Jacobs Cancer incidence and mortality in men with Klinefelter syndrome: A cohort study J Natl Cancer Inst 97 2005 1204 1210 (Pubitemid 41258226)
41. J. Visootsak, M. Aylstock, J.M. Graham Jr Klinefelter syndrome and its variants: An update and review for the primary pediatrician Clin Pediatr 40 2001 639 651 (Pubitemid 33139165)
42. S. van Rijn, H. Swaab, A. Aleman, R.S. Kahn X chromosomal effects on social cognitive processing and emotion regulation: A study with Klinefelter men (47,XXY) Schizophr Res 84 2006 194 203 (Pubitemid 44255605)
43. G. Fullerton, M. Hamilton, A. Maheshwari Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009? Hum Reprod 25 2010 588 597
44. G. Neri A possible explanation for the low incidence of gonosomal aneuploidy among the offspring of triplo-X individuals Am J Med Genet 18 1984 357 364 (Pubitemid 14124911)
45. S.A. Rasmussen, L.Y. Wong, Q. Yang, K.M. May, J.M. Friedman Population-based analyses of mortality in trisomy 13 and trisomy 18 Pediatrics 111 2003 777 784 (Pubitemid 36402901)
46. M.J. Parker, J.L. Budd, E.S. Draper, I.D. Young Trisomy 13 and trisomy 18 in a defined population: Epidemiological, genetic and prenatal observations Prenat Diagn 23 2003 856 860 (Pubitemid 37279874)
47. E.B. Hook, B.B. Topol, P.K. Cross The natural history of cytogenetically abnormal fetuses detected at midtrimester amniocentesis which are not terminated electively: New data and estimates of the excess and relative risk of late fetal death associated with 47,+21 and some other abnormal karyotypes Am J Hum Genet 45 1989 855 861 (Pubitemid 20045227)
48. P.C. Nowell, D.A. Hungerford Chromosome studies on normal and leukemic human leukocytes J Natl Cancer Inst 25 1960 85 109
49. T. Caspersson, S. Farber, G.E. Foley, J. Kudynowski, E.J. Modest, E. Simonsson Chemical differentiation along metaphase chromosomes Exp Cell Res 49 1968 219 222
50. T. Caspersson, L. Zech, C. Johansson, E.J. Modest Identification of human chromosomes by DNA-binding fluorescent agents Chromosoma 30 1970 215 227
51. M. Seabright A rapid banding technique for human chromosomes Lancet 2 1971 971 972
52. T. Caspersson, L. Zech, C. Johansson Analysis of human metaphase chromosome set by aid of DNA-binding fluorescent agents Exp Cell Res 62 1970 490 492
53. K.H. Choo Centromere DNA dynamics: Latent centromeres and neocentromere formation Am J Hum Genet 61 1997 1225 1233 (Pubitemid 28046896)
54. A. Schinzel Karyotype-phenotype correlations in autosomal chromosomal aberrations Prog Clin Biol Res 384 1993 19 31
55. L. Voullaire, R. Saffery, J. Davies, E. Earle, P. Kalitsis, H. Slater Trisomy 20p resulting from inverted duplication and neocentromere formation Am J Med Genet 85 1999 403-
56. Repeated Miscarriage American College of Obstetricians and Gynecologists 2005 http://www.acog.org/publications/faq/faq100.pdf
57. U. Francke, N. Oliver Quantitative analysis of high-resolution trypsin-Giemsa bands on human prometaphase chromosomes Hum Genet 45 1978 137 165 (Pubitemid 9041212)
58. J.J. Yunis High resolution of human chromosomes Science 191 1976 1268 1270
59. J.J. Yunis, D.W. Ball, J.R. Sawyer G-banding patterns of high-resolution human chromosomes 6-22, X, and Y Hum Genet 49 1979 291 306 (Pubitemid 10226232)
60. J.J. Yunis, J.R. Sawyer, D.W. Ball The characterization of high-resolution G-banded chromosomes of man Chromosoma 67 1978 293 307 (Pubitemid 9006161)
61. D.T. Miller, M.P. Adam, S. Aradhya, L.G. Biesecker, A.R. Brothman, N.P. Carter Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Am J Hum Genet 86 2010 749 764
62. A.J. Beuren, J. Apitz, D. Harmjanz Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance Circulation 26 1962 1235 1240
63. J.C. Williams, B.G. Barratt-Boyes, J.B. Lowe Supravalvular aortic stenosis Circulation 24 1961 1311 1318
64. A.K. Ewart, W. Jin, D. Atkinson, C.A. Morris, M.T. Keating Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene J Clin Invest 93 1994 1071 1077 (Pubitemid 24087159)
65. M.C. Lowery, C.A. Morris, A. Ewart, L.J. Brothman, X.L. Zhu, C.O. Leonard Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235 patients Am J Hum Genet 57 1995 49 53
66. S. Kølvraa, J. Koch, N. Gregersen, P.K. Jensen, A.L. Jørgensen, K.B. Petersen Application of fluorescence in situ hybridization techniques in clinical genetics: Use of two alphoid repeat probes detecting the centromeres of chromosomes 13 and 21 or chromosomes 14 and 22, respectively Clin Genet 39 1991 278 286
67. R.E. Magenis, C.L. Maslen, L. Smith, L. Allen, L.Y. Sakai Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1 Genomics 11 1991 346 351
68. H. Chen, W.H. Hoffman, C.J. Kusyk, C.M. Tuck-Muller, M.G. Hoffman, L.S. Davis De novo dup (5p) in a patient with congenital hypoplasia of the adrenal gland Am J Med Genet 55 1995 489 493
69. V. Tonk, N.R. Schneider, M.R. Delgado, J. Mao, R.A. Schultz Identification and molecular confirmation of a small chromosome 10q duplication [dir dup(10)(q24.2>q24.3)] inherited from a mother mosaic for the abnormality Am J Med Genet 61 1996 16 20
70. L.G. Shaffer, B.A. Bejjani, B. Torchia, S. Kirkpatrick, J. Coppinger, B.C. Ballif The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future Am J Med Genet C Semin Med Genet 145C 2007 335 345 (Pubitemid 350155972)
71. L.G. Shaffer, J.R. Lupski Molecular mechanisms for constitutional chromosomal rearrangements in humans Annu Rev Genet 34 2000 297 329 (Pubitemid 32065924)
72. J. Flint, A.O. Wilkie, V.J. Buckle, R.M. Winter, A.J. Holland, H.E. McDermid The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation Nat Genet 9 1995 132 140
73. B.B. De Vries, S.M. White, S.J. Knight, R. Regan, T. Homfray, I.D. Young Clinical studies on submicroscopic subtelomeric rearrangements: A checklist J Med Genet 38 2001 145 150 (Pubitemid 32250864)
74. B.B. De Vries, R. Winter, A. Schinzel, C. van Ravenswaaij-Arts Telomeres: A diagnosis at the end of the chromosomes J Med Genet 40 2003 385 398 (Pubitemid 36760655)
75. M.A. Hulten, C.P. Gould, A.S. Goldman, J.J. Waters Chromosome in situ suppression hybridisation in clinical cytogenetics J Med Genet 28 1991 577 582 (Pubitemid 21922662)
76. Y. Fang, A. Elahi, R.C. Denley, P.H. Rao, M.F. Brennan, S.C. Jhanwar Molecular characterization of permanent cell lines from primary, metastatic and recurrent malignant peripheral nerve sheath tumors (MPNST) with underlying neurofibromatosis-1 Anticancer Res 29 2009 1255 1262
77. C. Lindvall, M. Nordenskjld, A. Porwit, M. Bjrkholm, E. Blennow Molecular cytogenetic characterization of acute myeloid leukemia and myelodysplastic syndromes with multiple chromosome rearrangements Haematologica 86 2001 1158 1164 (Pubitemid 33063861)
78. K.S. Reddy, S. Wang, S. Groh, J. Gonatos SKY assessment of two karyotypes with 0-6 supernumerary marker/ring chromosomes and review of previously reported cases with two or more markers Am J Med Genet A 118A 2003 156 171 (Pubitemid 37063952)
79. B.A. Bejjani, L.G. Shaffer, B.C. Ballif The use of microarray technology for cytogenetics Methods Mol Biol 632 2010 125 139
80. G. Sonoda, J. Palazzo, S. du Manoir, A.K. Godwin, M. Feder, M. Yakushiji Comparative genomic hybridization detects frequent overrepresentation of chromosomal material from 3q26, 8q24, and 20q13 in human ovarian carcinomas Genes Chromosomes Cancer 20 1997 320 328 (Pubitemid 27520080)
81. T.F. McCutchan, M.F. Singer DNA sequences similar to those around the simian virus 40 origin of replication are present in the monkey genome Proc Natl Acad Sci USA 78 1981 95 99 (Pubitemid 11131246)
82. J.A. Rafalski, M. Hanafey, G.H. Miao, A. Ching, J.M. Lee, M. Dolan New experimental and computational approaches to the analysis of gene expression Acta Biochim Pol 45 1998 929 934 (Pubitemid 128436746)
83. C. Shim, W. Zhang, C.H. Rhee, J.H. Lee Profiling of differentially expressed genes in human primary cervical cancer by complementary DNA expression array Clin Cancer Res 4 1998 3045 3050 (Pubitemid 29001480)
84. H.J. Kung, H.C. Chen, D. Robinson Molecular profiling of tyrosine kinases in normal and cancer cells J Biomed Sci 5 1998 74 78 (Pubitemid 28253096)
85. B. Ylstra, P. van den Ijssel, B. Carvalho, R.H. Brakenhoff, G.A. Meijer BAC to the future! or oligonucleotides: A perspective for micro array comparative genomic hybridization (array CGH) Nucleic Acids Res 34 2006 445 450 (Pubitemid 43240234)
86. D.T. Miller, Y. Shen, L.A. Weiss, J. Korn, I. Anselm, C. Bridgemohan Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders J Med Genet 46 2009 242 248
87. A. Tyybakinoja, J. Vilpo, S. Knuutila High-resolution oligonucleotide array-CGH pinpoints genes involved in cryptic losses in chronic lymphocytic leukemia Cytogenet Genome Res 118 2007 8 12 (Pubitemid 47492006)
88. B. Xiang, H. Zhu, Y. Shen, D.T. Miller, K. Lu, X. Hu Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: A multicenter experience of 1499 clinical cases J Mol Diagn 12 2010 204 212
89. C.M. Ogilvie, J.W. Ahn, K. Mann, R.G. Roberts, F. Flinter A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: A case report Mol Cytogenet 2 2009 9
90. E.J. Seo, K.R. Jun, H.W. Yoo, H.K. Yoo, J.O. Lee [Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization] Korean J Lab Med 30 2010 70 75
91. P. Stankiewicz, J.R. Lupski Structural variation in the human genome and its role in disease Annu Rev Med 61 2010 437 455
92. S.T. Sherry, M.H. Ward, M. Kholodov, J. Baker, L. Phan, E.M. Smigielski DbSNP: The NCBI database of genetic variation Nucleic Acids Res 29 2001 308 311 (Pubitemid 32054478)
93. J. Gibson, N.E. Morton, A. Collins Extended tracts of homozygosity in outbred human populations Hum Mol Genet 15 2006 789 795 (Pubitemid 43264703)
94. J. Simon-Sanchez, S. Scholz, H.C. Fung, M. Matarin, D. Hernandez, J.R. Gibbs Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals Hum Mol Genet 16 2007 1 14 (Pubitemid 46152540)
95. C. Ginsburg, S. Fokstuen, A. Schinzel The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age Am J Med Genet 95 2000 454 460
96. T. Eggermann, M. Curtis, K. Zerres, H.E. Hughes Maternal uniparental disomy 16 and genetic counseling: New case and survey of published cases Genet Couns 15 2004 183 190 (Pubitemid 38899376)
97. I.S. Salafsky, S.N. MacGregor, U. Claussen, F. von Eggeling, U.P.D. Maternal Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20 Prenat Diagn 21 2001 860 863 (Pubitemid 33064083)
98. O. Polasek, C. Hayward, C. Bellenguez, V. Vitart, I. Kolci, R. McQuillan Comparative assessment of methods for estimating individual genome-wide homozygosity-by-descent from human genomic data BMC Genomics 11 2010 139
99. K. Wierenga, Z. Jiang, A. Alazami, F. Alkuraya, N. Tsinoremas A New SNP Array Evaluation Tool to Identify Rare Autosomal Recessive Conditions in the Offspring of Consanguineous Unions ACMG Annual Meeting 2011 American College of Medical Genetics Vancouver, BC
100. F.S. Alkuraya Homozygosity mapping: One more tool in the clinical geneticist's toolbox Genet Med 12 2010 236 239
101. D. H'Mida-Ben Brahim, A. M'Zahem, M. Assoum, Y. Bouhlal, F. Fattori, M. Anheim Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays J Neurol 258 2011 56 67
102. I. Pereiro, D. Valverde, T. Pieiro-Gallego, M. Baiget, S. Borrego, C. Ayuso New mutations in BBS genes in small consanguineous families with BardetBiedl syndrome: Detection of candidate regions by homozygosity mapping Mol Vis 16 2010 137 143
103. C.P. Schaaf, D.A. Scott, J. Wiszniewska, A.L. Beaudet Identification of incestuous parental relationships by SNP-based DNA microarrays Lancet 377 2011 555 556
104. F. Ansermet, J. Lespinasse, S. Gimelli, F. Bna, A. Paoloni-Giacobino Mild intellectual disability associated with a progeny of fatherdaughter incest: Genetic and environmental considerations J Child Sex Abus 19 2010 337 344
105. L. Bernardini, V. Alesi, S. Loddo, A. Novelli, I. Bottillo, A. Battaglia High-resolution SNP arrays in mental retardation diagnostics: How much do we gain? Eur J Hum Genet 18 2010 178 185
106. S. Ben-Shachar, B. Lanpher, J.R. German, M. Qasaymeh, L. Potocki, S.C. Nagamani Microdeletion 15q13.3: A locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders J Med Genet 46 2009 382 388
107. A. Brunet, L. Armengol, D. Heine, J. Rosell, M. Garca-Aragons, E. Gabau BAC array CGH in patients with velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1 BMC Med Genet 10 2009 144
108. L.M. Dibbens, S. Mullen, I. Helbig, H.C. Mefford, M.A. Bayly, S. Bellows Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: Precedent for disorders with complex inheritance Hum Mol Genet 18 2009 3626 3631
109. L.G. Shaffer, M.L. Slovak, L.J. Campbell ISCN (2009): An International System for Human Cytogenetic Nomenclature 2009 S Karger Basel
110. L.G. Shaffer, A.L. Beaudet, A.R. Brothman, B. Hirsch, B. Levy, C.L. Martin Microarray analysis for constitutional cytogenetic abnormalities Genet Med 9 2007 654 662 (Pubitemid 47415276)
111. C. Curtis, A.G. Lynch, M.J. Dunning, I. Spiteri, J.C. Marioni, J. Hadfield The pitfalls of platform comparison: DNA copy number array technologies assessed BMC Genomics 10 2009 588
112. R. Gunnarsson, J. Staaf, M. Jansson, A.M. Ottesen, H. Gransson, U. Liljedahl Screening for copy-number alterations and loss of heterozygosity in chronic lymphocytic leukemiaA comparative study of four differently designed, high resolution microarray platforms Genes Chromosomes Cancer 47 2008 697 711 (Pubitemid 351847582)
113. V.M. Riccardi Trisomy 8: an international study of 70 patients Birth Defects Orig Artic Ser 13 1977 171 184 (Pubitemid 8182206)
114. V. Puddy, B.C. Lam, M. Tang, K.Y. Wong, Y.H. Lam, K. Wong Variable levels of mosaicism for trisomy 21 in a non-immune hydropic infant with chylothorax Prenat Diagn 19 1999 764 766 (Pubitemid 29385410)
115. E. Baple, R. Palmer, R.C. Hennekam A microdeletion at 12q24.31 can mimic BeckwithWiedemann syndrome neonatally Mol Syndrom 1 2010 42 45
116. H. Engels, E. Wohlleber, A. Zink, J. Hoyer, K.U. Ludwig, F.F. Brockschmidt A novel microdeletion syndrome involving 5q14.3-q15: Clinical and molecular cytogenetic characterization of three patients Eur J Hum Genet 17 2009 1592 1599
117. S. Jaillard, C. Dubourg, M. Grard-Blanluet, A. Delahaye, L. Pasquier, C. Dupont 2q23.1 microdeletion identified by array comparative genomic hybridisation: An emerging phenotype with Angelman-like features? J Med Genet 46 2009 847 855
118. C. Hyon, S. Marlin, S. Chantot-Bastaraud, P. Mabboux, M.P. Beaujard, E. Al Ageeli A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation Eur J Med Genet 54 2010 287 291
119. M. Schiff, A. Delahaye, J. Andrieux, D. Sanlaville, C. Vincent-Delorme, A. Aboura Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: Four additional patients Eur J Med Genet 53 2010 303 308
120. V. Malan, O. Raoul, H.V. Firth, G. Royer, C. Turleau, A. Bernheim 19q13.11 deletion syndrome: A novel clinically recognisable genetic condition identified by array comparative genomic hybridisation J Med Genet 46 2009 635 640
121. J.C. Barber, D. Bunyan, M. Curtis, D. Robinson, S. Morlot, A. Dermitzel 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families Mol Cytogenet 3 2010 3
122. A. Noor, P.J. Gianakopoulos, B. Fernandez, C.R. Marshall, P. Szatmari, W. Roberts Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder Psychiatr Genet 19 2009 154 155
123. D.H. Lim, P.K. Rehal, M.S. Nahorski, F. Macdonald, T. Claessens, M. Van Geel A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene Hum Mutat 31 2010 E1043 E1051
124. J.N. Painter, H. Tapanainen, M. Somer, P. Tukiainen, K. Aittomki A 4-bp deletion in the Birt-Hogg-Dub gene (FLCN) causes dominantly inherited spontaneous pneumothorax Am J Hum Genet 76 2005 522 527 (Pubitemid 40250532)
125. E.H. Kim, S.Y. Jeong, H.J. Kim, Y.C. Kim A case of Birt-Hogg-Dub syndrome J Korean Med Sci 23 2008 332 335
126. M. Kunogi, M. Kurihara, T.S. Ikegami, T. Kobayashi, N. Shindo, T. Kumasaka Clinical and genetic spectrum of BirtHoggDube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature J Med Genet 47 2010 281 287
127. L.S. Schmidt, M.L. Nickerson, M.B. Warren, G.M. Glenn, J.R. Toro, M.J. Merino Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dub syndrome Am J Hum Genet 76 2005 1023 1033 (Pubitemid 40705436)
128. L.G. Dietz, A.A. Wylie, K.A. Rauen, S.K. Murphy, R.L. Jirtle, P.D. Cotter Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for PraderWilli syndrome using a multiplex methylation polymerase chain reaction assay J Med Genet 40 2003 e46
129. D.A. Regier, J.M. Friedman, C.A. Marra Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability Am J Hum Genet 86 2010 765 772
130. W.G. Newman, S. Hamilton, J. Ayres, N. Sanghera, A. Smith, L. Gaunt Array comparative genomic hybridization for diagnosis of developmental delay: An exploratory cost-consequences analysis Clin Genet 71 2007 254 259f (Pubitemid 46322664)