References
- 1Roeleveld N, Zielhuis GA, Gabreels F. The prevalence of mental retardation: a critical review of recent literature. Dev Med Child Neurol. 1997; 39:125-32.9062428RoeleveldNZielhuisGAGabreelsFThe prevalence of mental retardation: a critical review of recent literatureDev Med Child Neurol19973912532
- 2Christofolini DM, de Paula Ramos MA, Kulikowski LD, da Silva Bellucco FT, Belangero SI, Brunoni D, et al. Subtelomeric rearrangements and copy number variations in people with intellectual disabilities. J Intellect Disabil Res. 2010; 54:938-42.2080730410.1111/j.1365-2788.2010.01325.xChristofoliniDMdePaula Ramos MAKulikowskiLDdaSilva Bellucco FTBelangeroSIBrunoniDet alSubtelomeric rearrangements and copy number variations in people with intellectual disabilitiesJ Intellect Disabil Res20105493842
- 3Erjavec-Skerget A, Stangler-Herodez S, Zagorac A, Zagradisnik B, Kokalj-Vokac N. Subtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular-cytogenetic methods. Croat Med J. 2006; 47:841-50.17167856Erjavec-SkergetAStangler-HerodezSZagoracAZagradisnikBKokalj-VokacNSubtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular-cytogenetic methodsCroat Med J20064784150
- 4Koolen DA, Nillesen WM, Versteeg MH, Merkx GF, Knoers NV, Kets M, et al. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J Med Genet. 2004; 41: 892-9.10.1136/jmg.2004.02367115591274KoolenDANillesenWMVersteegMHMerkxGFKnoersNVKetsMet alScreening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)J Med Genet2004418929
- 5Mihci E, Ozcan M, Berker-Karauzum S, Keser I, Tacoy S, Hapsolat S, et al. Subtelomeric rearrangements of dysmorphic children with idiopathic mental retardation reveal 8 different chromosomal anomalies. Turk J Pediatr. 2009; 51:453-9.20112600MihciEOzcanMBerker-KarauzumSKeserITacoySHapsolatSet alSubtelomeric rearrangements of dysmorphic children with idiopathic mental retardation reveal 8 different chromosomal anomaliesTurk J Pediatr2009514539
- 6Park HK, Kim HJ, Kim HJ, Han SH, Kim YJ, Kim SH. Screening of subtelomeric rearrangements in 100 Korean pediatric patients with unexplained mental retardation and anomalies using subtelomeric FISH (fluorescence in situ hybridization). J Korean Med Sci. 2008; 23:573-8.1875604010.3346/jkms.2008.23.4.573ParkHKKimHJKimHJHanSHKimYJKimSHScreening of subtelomeric rearrangements in 100 Korean pediatric patients with unexplained mental retardation and anomalies using subtelomeric FISH (fluorescence in situ hybridization)J Korean Med Sci2008235738
- 7Popp S, Schulze B, Granzow M, Keller M, Holtgreve-Grez H, Schoell B, et al. Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay. Hum Genet. 2002; 111:31-9.1213623310.1007/s00439-002-0739-xPoppSSchulzeBGranzowMKellerMHoltgreve-GrezHSchoellBet alStudy of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assayHum Genet2002111319
- 8Rooms L, Reyniers E, Wuyts W, Storm K, van Luijk R, Scheers S, et al. Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics. Clin Genet. 2006; 69:58-64.16451137RoomsLReyniersEWuytsWStormKvanLuijk RScheersSet alMultiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnosticsClin Genet2006695864
- 9Shao L, Shaw CA, Lu XY, Sahoo T, Bacino CA, Lalani SR, et al. Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A. 2008; 146A:2242-51.10.1002/ajmg.a.3239918663743ShaoLShawCALuXYSahooTBacinoCALalaniSRet alIdentification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 casesAm J Med Genet A2008146A224251
- 10Stegmann AP, Jonker LM, Engelen JJ. Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements. Eur J Med Genet. 2008; 51:93-105.10.1016/j.ejmg.2007.10.00318032123StegmannAPJonkerLMEngelenJJProspective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangementsEur J Med Genet20085193105
- 11Linardopoulou EV, Williams EM, Fan Y, Friedman C, Young JM, Trask BJ. Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication. Nature. 2005; 437:94-100.1613613310.1038/nature04029LinardopoulouEVWilliamsEMFanYFriedmanCYoungJMTraskBJHuman subtelomeres are hot spots of interchromosomal recombination and segmental duplicationNature200543794100
- 12Shaffer LG, Lupski JR. Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet. 2000; 34:297-329.1109283010.1146/annurev.genet.34.1.297ShafferLGLupskiJRMolecular mechanisms for constitutional chromosomal rearrangements in humansAnnu Rev Genet200034297329
- 13De Vries BB, Winter R, Schinzel A, van Ravenswaaij-Arts C. Telomeres: a diagnosis at the end of the chromosomes. J Med Genet. 2003; 40:385-98.1280795810.1136/jmg.40.6.385DeVries BBWinterRSchinzelAvanRavenswaaij-Arts CTelomeres: a diagnosis at the end of the chromosomesJ Med Genet20034038598
- 14Gignac J, Danis K, Tihy F, Lemyre E. Prenatal detection of subtelomeric rearrangements by multi-subtelomere FISH in a cohort of fetuses with major malformations. Am J Med Genet A. 2006; 140:2768-75.GignacJDanisKTihyFLemyreEPrenatal detection of subtelomeric rearrangements by multi-subtelomere FISH in a cohort of fetuses with major malformationsAm J Med Genet A2006140276875
- 15Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010; 86: 749-64.10.1016/j.ajhg.2010.04.00620466091MillerDTAdamMPAradhyaSBieseckerLGBrothmanARCarterNPet alConsensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesAm J Hum Genet20108674964
- 16Jehee FS, Takamori JT, Medeiros PF, Pordeus AC, Latini FR, Bertola DR, et al. Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries. Eur J Med Genet. 2011; 54:e425-32.10.1016/j.ejmg.2011.03.00721457803JeheeFSTakamoriJTMedeirosPFPordeusACLatiniFRBertolaDRet alUsing a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countriesEur J Med Genet201154e42532
- 17Northrop EL, Ren H, Bruno DL, McGhie JD, Coffa J, Schouten J, et al. Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay. Hum Mutat. 2005; 26:477-86.1617080710.1002/humu.20243NorthropELRenHBrunoDLMcGhieJDCoffaJSchoutenJet alDetection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assayHum Mutat20052647786
- 18Rooms L, Reyniers E, Kooy RF. Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods. Hum Mutat. 2005; 25:513-24.1588064310.1002/humu.20185RoomsLReyniersEKooyRFSubtelomeric rearrangements in the mentally retarded: a comparison of detection methodsHum Mutat20052551324
- 19Rooms L, Reyniers E, van Luijk R, Scheers S, Wauters J, Ceulemans B, et al. Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA). Hum Mutat. 2004; 23:17-21.10.1002/humu.1030014695528RoomsLReyniersEvanLuijk RScheersSWautersJCeulemansBet alSubtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)Hum Mutat2004231721
- 20Ahn JW, Ogilvie CM, Welch A, Thomas H, Madula R, Hills A, et al. Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre. BMC Med Genet. 2007; 8:9.10.1186/1471-2350-8-9AhnJWOgilvieCMWelchAThomasHMadulaRHillsAet alDetection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centreBMC Med Genet200789
- 21Senchenko V, Liu J, Braga E, Mazurenko N, Loginov W, Seryogin Y, et al. Deletion mapping using quantitative real-time PCR identifies two distinct 3p21.3 regions affected in most cervical carcinomas. Oncogene. 2003; 22:2984-92.10.1038/sj.onc.120642912771950SenchenkoVLiuJBragaEMazurenkoNLoginovWSeryoginYet alDeletion mapping using quantitative real-time PCR identifies two distinct 3p21.3 regions affected in most cervical carcinomasOncogene200322298492
- 22Abdelmoity AT, LePichon JB, Nyp SS, Soden SE, Daniel CA, Yu S. 15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features. J Dev Behav Pediatr. 2012; 33:570-6.10.1097/DBP.0b013e31826052ae22922608AbdelmoityATLePichonJBNypSSSodenSEDanielCAYuS15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic featuresJ Dev Behav Pediatr2012335706
- 23Burnside RD, Pasion R, Mikhail FM, Carroll AJ, Robin NH, Youngs EL, et al. Microdeletion/ microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet. 2011; 130:517-28.2135984710.1007/s00439-011-0970-4BurnsideRDPasionRMikhailFMCarrollAJRobinNHYoungsELet alMicrodeletion/ microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delayHum Genet201113051728
- 24Wegiel J, Schanen NC, Cook EH, Sigman M, Brown WT, Kuchna I, et al. Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism. J Neuropathol Exp Neurol. 2012; 71:382-97.2248785710.1097/NEN.0b013e318251f537WegielJSchanenNCCookEHSigmanMBrownWTKuchnaIet alDifferences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autismJ Neuropathol Exp Neurol20127138297
- 25Anderlid BM, Schoumans J, Anneren G, Sahlen S, Kyllerman M, Vujic M, et al. Subtelomeric rearrangements detected in patients with idiopathic mental retardation. Am J Med Genet. 2002; 107:275-84.1184048310.1002/ajmg.10029AnderlidBMSchoumansJAnnerenGSahlenSKyllermanMVujicMet alSubtelomeric rearrangements detected in patients with idiopathic mental retardationAm J Med Genet200210727584
- 26Baker E, Hinton L, Callen DF, Altree M, Dobbie A, Eyre HJ, et al. Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies. Am J Med Genet. 2002; 107:285-93.10.1002/ajmg.1015911840484BakerEHintonLCallenDFAltreeMDobbieAEyreHJet alStudy of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomaliesAm J Med Genet200210728593
- 27Pujana MA, Nadal M, Guitart M, Armengol L, Gratacos M, Estivill X. Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons. Eur J Hum Genet. 2002; 10:26-35.10.1038/sj.ejhg.520076011896453PujanaMANadalMGuitartMArmengolLGratacosMEstivillXHuman chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 dupliconsEur J Hum Genet2002102635
- 28Soejima H, Higashimoto K. Epigenetic and genetic alterations of the imprinting disorder Beckwith– Wiedemann syndrome and related disorders. J Hum Genet. 2103; 58:402-9.SoejimaHHigashimotoKEpigenetic and genetic alterations of the imprinting disorder Beckwith– Wiedemann syndrome and related disordersJ Hum Genet2103584029
- 29Eggermann T, Meyer E, Obermann C, Heil I, Schuler H, Ranke MB, et al. Is maternal duplication of 11p15 associated with Silver-Russell syndrome? J Med Genet. 2005; 42:e26.1586365810.1136/jmg.2004.028936EggermannTMeyerEObermannCHeilISchulerHRankeMBet alIs maternal duplication of 11p15 associated with Silver-Russell syndrome?J Med Genet200542e26
- 30Eggermann T, Spengler S, Bachmann N, Baudis M, Mau-Holzmann UA, Singer S, et al. Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15). Am J Med Genet A. 2005; 152A:1484-7.EggermannTSpenglerSBachmannNBaudisMMau-HolzmannUASingerSet alChromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15)Am J Med Genet A2005152A14847
- 31Kent L, Emerton J, Bhadravathi V, Weisblatt E, Pasco G, Willatt LR, et al. X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits. J Med Genet. 2008; 45:519-24.10.1136/jmg.2008.05772918413370KentLEmertonJBhadravathiVWeisblattEPascoGWillattLRet alX-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficitsJ Med Genet20084551924
- 32Baldwin EL, Lee J Y, Blake DM, Bunke BP, Alexander CR, Kogan AL, et al. Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray. Genet Med. 2008; 10:415-29.1849622510.1097/GIM.0b013e318177015cBaldwinELLeeJ YBlakeDMBunkeBPAlexanderCRKoganALet alEnhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarrayGenet Med20081041529
- 33Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet. 2004; 41:241-8.10.1136/jmg.2003.01773115060094Shaw-SmithCRedonRRickmanLRioMWillattLFieglerHet alMicroarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic featuresJ Med Genet2004412418
- 34Shevell MI, Bejjani BA, Srour M, Rorem EA, Hall N, Shaffer L G. Array comparative genomic hybridization in global developmental delay. Am J Med Genet B Neuropsychiatr Genet. 2008; 147B:1101-8.10.1002/ajmg.b.3073018361433ShevellMIBejjaniBA our M
Sr RoremEAHallNShafferL GArray comparative genomic hybridization in global developmental delayAm J Med Genet B Neuropsychiatr Genet2008147B11018 - 35Tyson C, Harvard C, Locker R, Friedman JM, Langlois S, Lewis ME, et al. Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH. Am J Med Genet A. 2005; 139: 173-85.16283669TysonCHarvardCLockerRFriedmanJMLangloisSLewisMEet alSubmicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGHAm J Med Genet A200513917385
- 36Wagenstaller J, Spranger S, Lorenz-Depiereux B, Kazmierczak B, Nathrath M, Wahl D, et al. Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. Am J Hum Genet. 2007; 81: 768-79.10.1086/52127417847001WagenstallerJSprangerSLorenz-DepiereuxBKazmierczakBNathrathMWahlDet alCopy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardationAm J Hum Genet20078176879
- 37Li F, Shen Y, Kohler U, Sharkey FH, Menon D, Coulleaux L, et al. Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant? Eur J Med Genet. 2010; 53:93-9.2013291810.1016/j.ejmg.2010.01.004LiFShenYKohlerUSharkeyFHMenonDCoulleauxLet alInterstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?Eur J Med Genet201053939
- 38Gajecka M, Mackay KL, Shaffer LG. Monosomy 1p36 deletion syndrome. Am J Med Genet C Semin Med Genet. 2007; 145C:346-56.10.1002/ajmg.c.3015417918734GajeckaMMackayKLShafferLGMonosomy 1p36 deletion syndromeAm J Med Genet C Semin Med Genet2007145C34656
- 39Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, et al. Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet. 1997; 61:642-50.932633010.1086/515520ShapiraSKMcCaskillCNorthrupHSpikesASElderFFSuttonVRet alChromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndromeAm J Hum Genet19976164250
- 40Slavotinek A, Shaffer L G, Shapira SK. Monosomy 1p36. J Med Genet. 1999; 36:657-63.10507720SlavotinekAShafferL GShapiraSKMonosomy 1p36J Med Genet19993665763