References

A B C D E F G H I J K L M N O P R S T U V W Z

Anad F, Burn J, Matthews D, Cross I, Davison BCC, Mueller R, Sands M, Lillington DM, Eastham E. Alagille syndrome and deletion of 20p. J Med Genet 1990;27:729-737

Aladhami SM, Gould CP, Muhammad FA. A new inherited interstitial deletion of the distal long arm of chromosome 4. Hum Hered 2000;50:146-150 PMID: 10799975

Archidiacono N, Pecile V., Rocchi M, Dalpra L, Nocera G, Simoni G. A rare non-heterochromatic 9p+ variant in two amniotic fluid cell cultures. Prenat Diagn 1984;4:231-233

Aviv H, Lieber C, Yenamandra A, Desposito F. Familial transmission of a deletion of chromosome 21 derived from a translocation between chromosome 21 and an inverted chromosome 22. Am J Med Genet 1997;70:399-404

Baccichetti C, Lenzini E, Artifoni L, Caufin D, Marangoni P. Terminal deletion of the short arm of chromosome 5. Clin Genet 1988; 34:219-223.

Bailey JA, Baertsch R, Kent WJ, Haussler D, Eichler EE. Hotspots of mammalian chromosomal evolution. Genome Biol 2004;5:R23. [Epub ahead of print]

Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz S, Adams MD, Myers EW, Li PW, Eichler EE. Recent segmental duplications in the human genome. Science 2002;297:1003-1007.

Barber JCK, Mahl H, Portch J, Crawfurd MD’A. Interstitial deletions without phenotypic effect: prenatal diagnosis of a new family and brief review. Prenat Diagn 1991; 11:411-416

Barber JCK. Euchromatic heteromorphism or duplication without phenotypic effect? Prenat Diagn 1994; 14:323-324

Barber JCK, Temple IK, Campbell PL, Collinson MN, Campbell CM, Renshaw RM, Dennis NR. Unbalanced translocation in a mother and her son in one of two 5;10 translocation families. Am J Med Genet 1996;62:84-91

Barber JCK, Joyce CA, Collinson MN, Nicholson JC, Willatt LR, Dyson HM, Bateman MS, Green AJ, Yates JRW, Dennis NR. Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance. J Med Genet 1998a; 35:491-496

Barber JCK, Cross IE, Douglas F, Nicholson JC, Moore KJ, Browne CE. Neurofibromatosis pseudogene amplification underlies euchromatic cytogenetic duplications and triplications of proximal 15q. Hum Genet 1998b;103:600-608

Barber JCK, Reed CJ, Dahoun SP, Joyce CA. Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level. Hum Genet 1999;104:211-218

Barber JCK. An investigation of euchromatic cytogenetic imbalances without phenotypic effect. PhD Thesis, University of Southampton, 2000

Barber JCK, Thomas NS, Collinson MN, Dennis NR, Liehr T, Weise A, Belitz B, Pfeiffer L, a Kirchhoff M, Krag-Olsen B, Lundsteen C. Segmental haplosufficiency; transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences. Eur J Hum Genet 2005a;13:283-291

Barber JCK, Maloney, Hollox EJ, Stuke-Sontheimer A, du Bois G, Daumiller E, Klein-Vogler U, Dufke A, Armour JAL, Liehr T. Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level. Eur J Hum Genet 2005b;13:1131-1136

Barber JCK. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet 2005c;42:609-629

Barber JCK, Zjang S, Friend N, Collins AL, Hastings R, Farren B, Barnicoat A, Ye S. Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect. Cytogenet Genome Res 2006;114:351-358

Barber JCK, Maloney V, Bewes B, Wakeling W. Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype. Eur J Hum Genet, 2006;14:739-743

Barber JCK, Maloney VK, Kirchhoff M, Thomas NS, Boyle TA, Castle B. Duplication of 12q21.31 to 12q22 includes 48 genes and has no apparent phenotypic consequences, Am J Med Genet A, 2007;143A:615-618

Batanian JR, Morris K, Ma E, Huang Y, McComb J: Familial deletion of (8)(q24.13q24.22) associated with a normal phenotype. Clin Genet 2001;60:371-373

Begleiter ML, Cooper HA, Paszfor LM, Butler MG. Chromosome 8p23.1 duplication: is there an association with a clinical phenotype? Am J Hum Genet 2000; 65:Suppl.A158

Bendavid C, Pasquier L, Watrin T, Morcel K, Lucas J, Gicquel I, Dubourg C, Henry C, David V, Odent S, Leveque J, Pellerin I, Guerrier D. Phenotypic variability of a 4q34-->qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother. Eur J Med Genet 2006 Oct 1; [Epub ahead of print] PMID: 17081814

Bengtsson U, Mcmahon J, Quarrell O, Rubenstein C, David K, Greenberg F, Wasmuth JJ. Phenotypically normal carriers of unbalanced terminal deletions of 5p transmit the deletions to offspring who display growth and developmental delay. Am J Hum Genet 1990;47:Suppl.Abstract 818

Berry R, Mcgavran L, Robinson J, Staley L. Familial duplication of proximal 15q in Prader-Willi individual and her normal father. Am J Hum Genet 1987; 41:Suppl.A114

Bezrookove V, Hansson K, van der Burg M, van der Smagt JJ, Hilhorst-Hofstee Y, Wiegant J, Beverstock GC, Raap AK, Tanke H, Breuning MH, Rosenberg C. Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH. Hum Genet 2000;106:392-398.

Biesecker LG. The end of the beginning of chromosome ends. Am J Med Genet 2002;107:263-266.

Bogart MH, Bradshaw C, Jones OW. Prenatal diagnosis of euchromatic 16p+ heteromorphisms in two unrelated families. Prenat Diagn 1991;11;417-418

Bolton PF, Dennis NR, Browne CE, Thomas NS, Veltman MW, Thompson RJ, Jacobs P. The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders. Am J Med Genet 2001;105:675-685.

Borgaonkar DS, Bias WB, Chase GA, Sadasivan G, Herr HM, Golomb HM, Bahr GF. Identification of a C6/G21 translocation chromosome by the Q-M and Giemsa banding techniques in a patient with Down’s syndrome, with possible assignment of Gm locus. Clin Genet 1973; 4:53-57

Bortotto L, Piovan E, Furlan R, Rivera H, Zuffardi O. Chromosome imbalance, normal phenotype, and imprinting. J Med Genet 1990;27:582-587

Boyar FZ, Whitney MM, Lossie AC, Gray BA, Keller KL, Stalker HJ, Zori RT, Geffken G, Mutch J, Edge PJ, Voeller KS, Williams CA, Driscoll DJ. A family with a grand-maternally derived interstitial duplication of proximal 15q. Clin Genet 2001;60:421-430 PMID: 11846734

Brooks SS, Genovese M, Gu H, Duncan CJ, Shanske A, Jenkins EC. Normal adaptive function with learning disability in duplication 8p including p22. Am J Med Genet 1998; 78:114-117

Brookwell R, Veleba A. Proximal 15q variant with normal phenotype in three unrelated individuals. Clin Genet 1987; 31:311-314

Browne CE, Dennis NR, Maher E, Long SL, Nicholson J, Sillibourne J, Barber JCK. Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations. Am J Hum Genet 1997;61:1342-1352

Bryke CR, Breg WR, Potluri VR, Yang-Feng TL. Duplication of euchromatin without phenotypic effects: a variant of chromosome 16. Am J Med Genet 1990; 36:43-44

Buckland PR. Polymorphically duplicated genes: their relevance to phenotypic variation in humans. Ann Med 2003;35:308-315.

Buckton KE, O’Riordan ML, Ratcliffe S, Slight J, Mitchell M, McBeath S. A G-band study of chromosomes in liveborn infants. Ann Hum Genet 1980;43:227-239

Byth BC, Costa MT, Teshima IE, Wilson WG, Carter NP, Cox DW. Molecular analysis of three patients with interstitial deletions of chromosome band 14q31. J Med Genet 1995;32:564-567

Carr DM, Moore H, Beurkdzhyan T. Unbalanced chromosome number one in normal progeny and carrier father. Am J Hum Genet 1988;43:Suppl A104

Casamassima AC, Klein RM, Wilmot PL, Brenholz P, Shapiro LR. Deletion of 16q with prolonged survival and unusual radiographic manifestations. Am J Med Genet 1990;37:504-509

Chan NP, Ng MH, Cheng SH, Lee V, Tsang KS, Lau TT, Li CK. Hereditary duplication of proximal chromosome 1q (q11q22) in a patient with T lymphoblastic lymphoma/leukaemia: a family study using G banding and comparative genomic hybridisation. J Med Genet 2002;39:e79.

Chan S, Dill FJ, Langlois S, Pantzar JT, Lomax B, Rajcan-Separovic E. Segregation of a novel euchromatic expansion of 8p22 in three generations with no associated phenotypic abnormalities. Am J Hum Genet 2003;73 Suppl:316

Chandley AC. Meiotic studies and fertility in human translocation carriers. In Daniel A (ed) The cytogenetics of mammalian autosomal rearrangements. Alan R Liss, New York 1988;pp361-382

Church DM, Bengtsson U, Nielsen KV, Wasmuth JJ, Niebuhr E (1995) Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. Am J Hum Genet 56:1162-1172.

Clark RE, Geddes D, Whittaker K, Jacobs A. Myelodysplastic syndrome in a kindred with ins(16)(p11.2). Clin Genet 1988;33:418-423

Cody JD, Hale DE. Precision in phenotyping and genotyping. Am J Med Genet 2004:131A;313

Cook EH Jr, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet 1997;60:928-934

Cooke A, Tolmie JL, Colgan JM, Greig CM, Connor JM. Detection of an unbalanced translocation (4;14) in a mildly retarded father and son by flow cytometry. Hum Genet 1989;83:83-87

Cornish KM, Cross G, Green A, Willatt L, Bradshaw JM. A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis. J Med Genet 1999;36:567-570

Couturier J, Morichon-Delvallez N, Dutrillaux B. Deletion of band 13q21 is compatible with normal phenotype. Hum Genet 1985;70:87-91

Cowell JK, Rutland R, Hungerford J, Jay M. Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma. Hum Genet 1988;80:43-45

Croci G, Camurri L, Franchi F. A familial case of chromosome-16p variant. J Med Genet 1991;28:60-64

Crolla JA. FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature. Am J Med Genet 1998;75:367-381

Curtis MA, Smith RA, Sibert J, Hughes HE. Interstitial deletion, del(4)(q33q35.1) in a mother and two children. J Med Genet 1989;26:652-654

Daniel A. Case reports: normal phenotype and partial trisomy for the G-positive region of chromosome 21. J Med Genet 1979b;16:227-229

Daniel A. Structural differences in reciprocal translocations. Potential for a model of risk in rcp. Hum Genet 1979a;51:171-182

Davis G, James T, Larkins SA, Dyer SA, Gould CP, Thompson DA, MacDonald F, Cole T, Davison EV. A large de novo deletion of the long arm of chromosome 10 without apparent clinical effect. J Med Genet 1999;36 Suppl 1, 3.239

De Vries BB, Winter R, Schinzel A, van Ravenswaaij-Arts C. Telomeres: a diagnosis at the end of the chromosomes. J Med Genet 2003;40:385-398.

Delatycki MB, Voullaire L, Francis D, Petrovic V, Robertson A, Webber LM, Slater HR. Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection. J Med Genet 1999;36:335-338

Dhooge C, Vanroy N, Craen M, Speleman F. Direct transmission of a tandem duplication in the short arm of chromosome 8. Clin Genet 1994;5:36-39

Di Giacomo MC, Cesarano C, Bukvic N, Manisali E, Guanti G, Susca F. Duplication of 9 p11.2-p13.1: a benign cytogenetic variant.
Prenat Diagn 2004;24:619-22 PMID: 15305349

Docherty Z, Hulten MA. Extra euchromatic band in the qh region of chromosome 9. J Med Genet 1985;22:157-157

Docherty Z, Hulten MA. Rare variant of chromosome 9. Am J Med Genet 1993;45:105-106.

Eichler EE, Budarf ML, Rocchi M, Deaven LL, Doggett NA, Baldini A, Nelson DL, Mohrenweiser HW. Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity. Hum Mol Genet 1997;6:991-1002

Eichler EE, Lu F, Shen Y, Antonacci R, Jurecic V, Doggett NA, Moyzis RK, Baldini A, Gibbs RA, Nelson DL. Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution. Hum Mol Genet 1996;5:899-913

Engelen JJM, de Die-Smulders CE, Dirckx R, Verhoeven WM, Tuinier S, Curfs LM, Hamers AJ. Duplication of chromosome region (16)(p11.2 --> p12.1) in a mother and daughter with mild mental retardation. Am J Med Genet 2002;109:149-53. Review PMID: 11977164

Engelen JJM, Moog U, Evers JLH, Dassen H, Albrechts JCM, Hamers AJH. Duplication of 8p23.1 -> p23.2: A Benign Variant? Am J Med Genet 2000;91:18-21

Engelen JJM, Die-Smulders CE de, Vos PT, Meers LE, Albrechts JC, Hamers AJ. Characterizastion of a partial trisomy 16q with FISH. Report of a patient and review of the literature. Ann Genet 1999;42:101-104

Engelen JJM, de Die-Smulders CEM, Sijstermans JMJ, Meers LEC, Albrechts JCM, Hamers AJH. Familial partial trisomy 8p without dysmorphic features and only mild mental retardation. J Med Genet 1995;32:792-795

Epstein CJ. “The consequences of chromosomal imbalance” Cambridge University Press 1986;39-42

Epstein CJ. The pathogenesis of aneuploid phenotypes: the fallacy of explanatory reductionism. Am J Med Genet 1988;33:151

Faivre L, Morishon-Delvallez N, Viot G, Martinovic J, Pinson MP, Aubry JP, Raclin V, Edery P, Dumez Y, Munnich A, Vekemans M. Prenatal