A novel de novo paracentric inversion [inv(20)(q13.1q13.3)] accompanied by an 11q14.3-q21 microdeletion in a pediatric patient with an intellectual disability
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Fryns JP, van den Berghe H. Paracentric inversion in man: Personal experience and review of the literature. Hum Genet. 1980; 54(3): 413-416.FrynsJPvanden Berghe HParacentric inversion in man: Personal experience and review of the literature198054341341610.1007/BF002915907399530Search in Google Scholar
Hook EB, Schreinemachers DM, Willey AM, Cross PK. Inherited structural cytogenetic abnormalities detected incidentally in fetuses diagnosed prenatally: Frequency, parental-age associations, sex-ratio trends and comparisons with rates of mutants. Am J Hum Genet. 1984; 36(2): 422-443.HookEBSchreinemachersDMWilleyAMCrossPKInherited structural cytogenetic abnormalities detected incidentally in fetuses diagnosed prenatally: Frequency, parental-age associations, sex-ratio trends and comparisons with rates of mutants1984362422443Search in Google Scholar
Madan K. Paracentric inversions: A review. Hum Genet. 1995; 96(5): 503-515.MadanKParacentric inversions: A review199596550351510.1007/BF001974038529995Search in Google Scholar
Greger V, Knoll JH, Wagstaff J,Woolf E, Lieske P, Glatt H, et al. Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3. Am J Med Genet. 1997; 60(3): 574-580.GregerVKnollJHWagstaffJWoolfELieskePGlattHAngelman syndrome associated with an inversion of chromosome 15q11.2q24.31997603574580Search in Google Scholar
Saito-Ohara F, Fukuda Y, Ito M, Agarwala KL, Hayashi M, Matsuo M, et al. The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation. Am J Hum Genet. 2002; 71(3): 637-645.Saito-OharaFFukudaYItoMAgarwalaKLHayashiMMatsuoMThe Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation200271363764510.1086/34220837919912145744Search in Google Scholar
McGowan-Jordan J, Simons A, Schmid M, Editors. ISCN 2016: An International System for Human Cytogenomic Nomenclature, 2016 ed. Basel, Switzerland: S. Karger AG, 2016.McGowan-JordanJSimonsASchmidMBasel, SwitzerlandS. Karger AG201610.1159/isbn.978-3-318-06861-0Search in Google Scholar
Vialard F, Delanete A, Clement P, Simon-Bouy B, Aubriot FX, Selva J. Sperm chromosome analysis in two cases of paracentric inversion. Fertil Steril. 2007; 87(2): 418.e1-e5.VialardFDelaneteAClementPSimon-BouyBAubriotFXSelvaJSperm chromosome analysis in two cases of paracentric inversion2007872418e1-e510.1016/j.fertnstert.2006.05.08717126336Search in Google Scholar
Aldred MA, Aftimos S, Hall C, Waters KS, Thakker RV, Trembath RC, et al. Constitutional deletion of chromosome 20q in two patients affected with al-bright hereditary osteodystrophy. Am J Med Genet. 2002; 113(4): 167-172.AldredMAAftimosSHallCWatersKSThakkerRVTrembathRCConstitutional deletion of chromosome 20q in two patients affected with al-bright hereditary osteodystrophy2002113416717210.1002/ajmg.1075112407707Search in Google Scholar
Fraisse J, Bertheas MF, Frere F, Lauras B, Rolland MO, Brizard CP. Partial monosomy 20q: A new syndrome. Regional assignment of the adenosine deaminase (ADA) locus on 20q132. Ann Genet. 1981; 24(22): 216-219.FraisseJBertheasMFFrereFLaurasBRollandMOBrizardCPPartial monosomy 20q: A new syndrome. Regional assignment of the adenosine deaminase (ADA) locus on 20q13219812422216219Search in Google Scholar
Genevieve D, Sanlaville D, Faivre L, Kottler ML, Jambou M, Gosset P, et al. Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties. Eur J Hum Genet. 2005; 13(9): 1033-1039.GenevieveDSanlavilleDFaivreLKottlerMLJambouMGossetPPaternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties20051391033103910.1038/sj.ejhg.520144815915160Search in Google Scholar
Petersen MB, Tranebjaerg L, Tommerup N, Nygaard P, Edwards H. New assignment of the adenosine deaminase gene locus to chromosome20q13.11 by study of a patient with interstitial deletion 20q. J Med Genet. 1987; 24(2): 93-96.PetersenMBTranebjaergLTommerupNNygaardPEdwardsHNew assignment of the adenosine deaminase gene locus to chromosome20q13.11 by study of a patient with interstitial deletion 20q1987242939610.1136/jmg.24.2.9310498963560174Search in Google Scholar
Shabtai F, Ben-Sasson E, Arieli S, Grinblat J. Chromosome 20 long arm deletion in an elderly malformed man. J Med Genet. 1993; 30(2): 171-173.ShabtaiFBen-SassonEArieliSGrinblatJChromosome 20 long arm deletion in an elderly malformed man199330217117310.1136/jmg.30.2.17110162808445626Search in Google Scholar
Lin Y, Chen C, Chen T, Hsu C, Chou S, Chien S. Prenatal diagnosis of a de novo interstitial deletion of chromosome 20q12 in a fetus with complex congenital heart defects, corpus callosum agenesis and intrauterine growth restriction. Taiwan J Obstet Gynecol. 2011; 50(4): 528-530.LinYChenCChenTHsuCChouSChienSPrenatal diagnosis of a de novo interstitial deletion of chromosome 20q12 in a fetus with complex congenital heart defects, corpus callosum agenesis and intrauterine growth restriction201150452853010.1016/j.tjog.2011.10.02422212331Search in Google Scholar
Zankl A, Duncan E, Leo P, Clark G, Glazov E, Addor M, et al. Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. Am J Hum Genet. 2012; 90(3): 494-501.ZanklADuncanELeoPClarkGGlazovEAddorMMulticentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB201290349450110.1016/j.ajhg.2012.01.003330918322387013Search in Google Scholar
Park J, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan WM, et al. Loss of MAFB function in humans and mice causes Duane syndrome, aberrant extraocular muscle innervation, and inner-ear defect. Am J Hum Genet. 2016; 98(6): 1220-1227.ParkJTischfieldMANugentAAChengLDiGioia SAChanWMLoss of MAFB function in humans and mice causes Duane syndrome, aberrant extraocular muscle innervation, and inner-ear defect20169861220122710.1016/j.ajhg.2016.03.023490819327181683Search in Google Scholar
Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, et al. The 11q terminal deletion disorder: A prospective study of 110 cases. Am J Med Genet A. 2004; 129A(1): 51-61.GrossfeldPDMattinaTLaiZFavierRJonesKLCotterFThe 11q terminal deletion disorder: A prospective study of 110 cases2004129A1516110.1002/ajmg.a.3009015266616Search in Google Scholar
Liu N, Yan J, Chen X, Song J, Wang B, Yao Y. Prenatal diagnosis of a de novo interstitial deletion of 11q (11q22.3→q23.3) associated with abnormal ultrasound findings by array comparative genomic hybridization. Mol Cytogenet. 2014; 25(7): 62.LiuNYanJChenXSongJWangBYaoYPrenatal diagnosis of a de novo interstitial deletion of 11q (11q22.3→q23.3) associated with abnormal ultrasound findings by array comparative genomic hybridization20142576210.1186/s13039-014-0062-y418960825298785Search in Google Scholar
Papoulidis I, Paspaliaris V, Siomou E, Orru S, Murru R, Sifakis S, et al. Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male. Mol Cytogenet. 2015; 8: 71-78.PapoulidisIPaspaliarisVSiomouEOrruSMurruRSifakisSInterstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male20158717810.1186/s13039-015-0175-y457417626388939Search in Google Scholar
Kaufmann R, Straussberg R, Mandel H, Fattal-Valevski A, Ben-Zeev B, Naamati A, et al. Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex. Am J Hum Genet. 2010; 87(5): 667-670.KaufmannRStraussbergRMandelHFattal-ValevskiABen-ZeevBNaamatiAInfantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex201087566767010.1016/j.ajhg.2010.09.016297894620950787Search in Google Scholar
Hirabayashi S, Saitsu H, Matsumoto N. Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 (MED17). Brain Dev. 2016; 38(1): 118-123.HirabayashiSSaitsuHMatsumotoNDistinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 (MED17)201638111812310.1016/j.braindev.2015.05.00426004231Search in Google Scholar