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Fetal cystic hygroma associated with terminal 2p25.1 duplication and terminal 3p25.3 deletion: Cytogenetic, fluorescent in situ hybridization and microarray familial characterization of two different chromosomal structural rearrangements

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Bonaglia MC, Giorda R, Massagli A, Galluzzi R, Ciccone R, Zuffardi O. A familial inverted duplication/ deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications. Eur J Hum Genet. 2009; 17(2): 179-186.BonagliaMCGiordaRMassagliAGalluzziRCicconeRZuffardiOA familial inverted duplication/ deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplicationsEur J Hum Genet200917217918610.1038/ejhg.2008.160Search in Google Scholar

Aviram-Goldring A, Fritz B, Bartsch C, Steuber E, Daniely M, Lev D, et al. Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue. Am J Med Genet. 2000; 91(1): 74-82.Aviram-GoldringAFritzBBartschCSteuberEDanielyMLevDet alMolecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissueAm J Med Genet2000911748210.1002/(SICI)1096-8628(20000306)91:1<74::AID-AJMG14>3.0.CO;2-OSearch in Google Scholar

Lee C, Murray MF, Miron OM, Marsden D, Irons M, Wilkins-Haug LE, et al. Clinical picture: Multicolour karyotyping. Lancet. 2001; 357(9264): 1240.LeeCMurrayMFMironOMMarsdenDIronsMWilkins-HaugLEet alClinical picture: Multicolour karyotypingLancet20013579264124010.1016/S0140-6736(00)04472-XSearch in Google Scholar

Sperry ED, Schuette JL, van Ravenswaaij-Arts CMA, Green GE, Martin DM. Duplication 2p25 in a child with clinical features of CHARGE syndrome. Am J Med Genet A. 2016; 170A(5): 1148-1154.SperryEDSchuetteJLvanRavenswaaij-Arts CMAGreenGEMartinDMDuplication 2p25 in a child with clinical features of CHARGE syndromeAm J Med Genet A2016170A51148115410.1002/ajmg.a.37592Search in Google Scholar

Malmgren H, Sahlén S, Wide K, Cundvall M, Blennow E. Distal 3p Syndrome: Detailed molecular cytogenetic and clinical characterization of three small distal deletions and review. Am J Med Genet. 2007; 143(18): 2143-2149.MalmgrenHSahlénSWideKCundvallMBlennowEDistal 3p Syndrome: Detailed molecular cytogenetic and clinical characterization of three small distal deletions and reviewAm J Med Genet2007143182143214910.1002/ajmg.a.31902Search in Google Scholar

Moghadasi S, Haeringen A, Langerdonck L, Gijsbers ACJ, Ruivenkamp CAL. A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four-generation family. Am J Med Genet A. 2014; 164A(11): 2863-2868.MoghadasiSHaeringenALangerdonckLGijsbersACJRuivenkampCALA terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four-generation familyAm J Med Genet A2014164A112863286810.1002/ajmg.a.36700Search in Google Scholar

Chen C-P, Liu F-F, Jan S-W, Lin S-P, Lan C-C. Prenatal diagnosis of partial monosomy 3p and partial trisomy 2p in fetus associated with shortening of the long bones and a single umbilical artery. Prenat Diagn. 1996; 16(?): 270-275.ChenC-PLiuF-FJanS-WLinS-PLanC-CPrenatal diagnosis of partial monosomy 3p and partial trisomy 2p in fetus associated with shortening of the long bones and a single umbilical arteryPrenat Diagn199616?27027510.1002/(SICI)1097-0223(199603)16:3<270::AID-PD836>3.0.CO;2-0Search in Google Scholar

Wakita Y, Narahara K, Takahashi Y, Kikkawa K, Kimura S, Oda M, et al. Duplication of 2p25: Confirmation of the assignment of soluble acid phosphatise (ACP1) locus to 2p25. Hum Genet. 1985; 71(3): 259-260.WakitaYNaraharaKTakahashiYKikkawaKKimuraSOdaMet alDuplication of 2p25: Confirmation of the assignment of soluble acid phosphatise (ACP1) locus to 2p25Hum Genet198571325926010.1007/BF00284586Search in Google Scholar

Roggenbuck JA, Fink JM, Mendelsohn NJ. Unique case of trisomy 2p24.3-pter with no associated monosomy. Am J Med Genet. 2001; 101(1): 50-54.RoggenbuckJAFinkJMMendelsohnNJUnique case of trisomy 2p24.3-pter with no associated monosomyAm J Med Genet20011011505410.1002/ajmg.1309Search in Google Scholar

Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, et al. De novo SOX11 mutations cause Coffin-Siris syndrome. Nat Commun. 2014; 5: 4011.TsurusakiYKoshimizuEOhashiHPhadkeSKouIShiinaMet alDe novo SOX11 mutations cause Coffin-Siris syndromeNat Commun20145401110.1038/ncomms5011Search in Google Scholar

De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, et al. Refinement of the critical 2p25.3 deletion region: The role of MYT1L in intellectual disability and obesity. Genet Med. 2015; 17(6): 460-466.DeRocker NVergultSKoolenDJacobsEHoischenAZeesmanSet alRefinement of the critical 2p25.3 deletion region: The role of MYT1L in intellectual disability and obesityGenet Med201517646046610.1038/gim.2014.124Search in Google Scholar

Lund ICB, Christensen R, Petersen OB, Vogel I, Vestergaard EM. Chromosomal microarray in foetuses with increased nuchal translucency. Ultrasound Obstet Gynecol. 2015; 45(1): 95-100.LundICBChristensenRPetersenOBVogelIVestergaardEMChromosomal microarray in foetuses with increased nuchal translucencyUltrasound Obstet Gynecol20154519510010.1002/uog.14726Search in Google Scholar

Thangavelu M, Frolich G, Rogers D. Partial duplication 2p as the sole abnormality in two cases with anencephaly. Am J Med Genet A. 2004; 124A(2): 170-172.ThangaveluMFrolichGRogersDPartial duplication 2p as the sole abnormality in two cases with anencephalyAm J Med Genet A2004124A217017210.1002/ajmg.a.20322Search in Google Scholar

Marlet L, Alix E, Till M, Raskin-Champion F, Attia J, Boggio D, et al. Prenatal diagnosis of trisomy 2p due to terminal 2p duplication including interstitial telomeric sequences. Cytogenet Genome Res. 2017; 153(3): 117-124.MarletLAlixETillMRaskin-ChampionFAttiaJBoggioDet alPrenatal diagnosis of trisomy 2p due to terminal 2p duplication including interstitial telomeric sequencesCytogenet Genome Res2017153311712410.1159/000485392Search in Google Scholar

Kuechler A, Zink AM, Wieland T, Lüdecke H-J, Cremer K, Salviati L, et al. Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. Eur J Hum Genet. 2015; 23(6): 753-760.KuechlerAZinkAMWielandTLüdeckeH-JCremerKSalviatiLet alLoss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndromeEur J Hum Genet201523675376010.1038/ejhg.2014.165Search in Google Scholar

Mattioli F, Schaefer E, Magee A, Mark P, Mancini M, Dieterich K, et al. Mutations in histone acetylase modifier BRPF1 cause an autosomal-dominant form of intellectual disability with associated ptosis. Am J Hum Genet 2017; 100(1): 105-116.MattioliFSchaeferEMageeAMarkPManciniMDieterichKet alMutations in histone acetylase modifier BRPF1 cause an autosomal-dominant form of intellectual disability with associated ptosisAm J Hum Genet2017100110511610.1016/j.ajhg.2016.11.010Search in Google Scholar

Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, et al. Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am J Hum Genet. 2004; 74(6): 1286-1293.FernandezTMorganTDavisNKlinAMorrisAFarhiAet alDisruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndromeAm J Hum Genet20047461286129310.1086/421474Search in Google Scholar

Suzuki-Muromoto S, Hino-Fukuyo N, Haginoya K, Kikuchi A, Sato H, Sato Y, et al. A case of 3p deletion syndrome associated with cerebellar hemangioblastoma. Brain Dev. 2015; 2(2): 257-206.Suzuki-MuromotoSHino-FukuyoNHaginoyaKKikuchiASatoHSatoYet alA case of 3p deletion syndrome associated with cerebellar hemangioblastomaBrain Dev20152225720610.1016/j.braindev.2015.07.005Search in Google Scholar

Pohjola P, De Leeuw N, Penttinen M, Kääriäinen H. Terminal 3p deletions in two families - Correlation between molecular karyotype and phenotype. Am J Med Genet A. 2010; 152A(2): 441–446.PohjolaPDeLeeuw NPenttinenMKääriäinenHTerminal 3p deletions in two families - Correlation between molecular karyotype and phenotypeAm J Med Genet A2010152A244144610.1002/ajmg.a.33215Search in Google Scholar

Cuoco C, Ronchetto P, Gimelli S, Béna F, Divizia MT, Lerone M, et al. Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children. Orphanet J Rare Dis. 2011; 6: 12.CuocoCRonchettoPGimelliSBénaFDiviziaMTLeroneMet alMicroarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected childrenOrphanet J Rare Dis201161210.1186/1750-1172-6-12Search in Google Scholar

Cargile CB, Goh DL-M, Goodman BK, Chen X-N, Korenberg JR, Semenza GL, et al. Molecular cytogenetic characterization of subtle interstitial del(3) (p25.3-p26.2) in patient with 3p syndrome. Am J Med Genet. 2002; 109(2): 133-138.CargileCBGohDL-MGoodmanBKChenX-NKorenbergJRSemenzaGLet alMolecular cytogenetic characterization of subtle interstitial del(3) (p25.3-p26.2) in patient with 3p syndromeAm J Med Genet2002109213313810.1002/ajmg.10323Search in Google Scholar

Carvill GL, Jacinta M, McMahon JM, Schneider A, Zemel M, Myers CT, et al. Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonicatonic seizures. Am J Hum Genet. 2015; 96(5): 808-815.CarvillGLJacintaMMcMahonJMSchneiderAZemelMMyersCTet alMutations in the GABA transporter SLC6A1 cause epilepsy with myoclonicatonic seizuresAm J Hum Genet201596580881510.1016/j.ajhg.2015.02.016Search in Google Scholar

Shuib S, McMullan D, Rattenberry E, Barber RM, Rahman F, Zatyka M, et al. Microarray based analysis of 3p25-p26 deletions (3p-syndrome). Am J Med Genet A. 2009; 149A(10): 2099-2105.ShuibSMcMullanDRattenberryEBarberRMRahmanFZatykaMet alMicroarray based analysis of 3p25-p26 deletions (3p-syndrome)Am J Med Genet A2009149A102099210510.1002/ajmg.a.32824Search in Google Scholar

Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD, et al. Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Am J Hum Genet. 2003; 72(4): 10471052.RobinsonSWMorrisCDGoldmuntzERellerMDJonesMASteinerRDet alMissense mutations in CRELD1 are associated with cardiac atrioventricular septal defectsAm J Hum Genet20037241047105210.1086/374319Search in Google Scholar

Sotgia F, Minetti C, Lisanti MP. Localization of the human caveolin-3 gene to the D3S18/D3S4163/ D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene. Identification of the caveolin-3 gene as a candidate for deletion in 3psyndrome. FEBS Lett. 1999; 452(3): 177-180.SotgiaFMinettiCLisantiMPLocalization of the human caveolin-3 gene to the D3S18/D3S4163/ D3S4539 locus (3p25), in close proximity to the human oxytocin receptor geneIdentification of the caveolin-3 gene as a candidate for deletion in 3psyndrome. FEBS Lett1999452317718010.1016/S0014-5793(99)00658-4Search in Google Scholar

Peltekova IT, Macdonald A, Armour C. Microdeletion on 3p25 in a patient with features of 3p deletion syndrome. Am J Med Genet A. 2012; 158A(10): 2583-2586.PeltekovaITMacdonaldAArmourCMicrodeletion on 3p25 in a patient with features of 3p deletion syndromeAm J Med Genet A2012158A102583258610.1002/ajmg.a.35559Search in Google Scholar

Chen C-P, Su Y-N, Chen C-Y, Su J-W, Chern S-R, Town D-D, et al. Pure partial monosomy 3p (3p25.3→ pter): Prenatal diagnosis and array comparative genomic hybridization characterization. Taiwan J Obstet Gynecol. 2012; 51(3): 435-439.ChenC-PSuY-NChenC-YSuJ-WChernS-RTownD-Det alPure partial monosomy 3p (3p25.3→ pter): Prenatal diagnosis and array comparative genomic hybridization characterizationTaiwan J Obstet Gynecol201251343543910.1016/j.tjog.2012.07.022Search in Google Scholar

Chen C-P, Chen Y-Y, Chern S-R, Wu P-S, Su J-W, Chen W-L, et al. Prenatal diagnosis of a distal 3p deletion associated with fetoplacental chromosomal discrepancy and confined placental mosaicism detected by array comparative genomic hybridization. Taiwan J Obstet Gynecol. 2013; 52(2): 278-284.ChenC-PChenY-YChernS-RWuP-SSuJ-WChenW-Let alPrenatal diagnosis of a distal 3p deletion associated with fetoplacental chromosomal discrepancy and confined placental mosaicism detected by array comparative genomic hybridizationTaiwan J Obstet Gynecol201352227828410.1016/j.tjog.2013.04.023Search in Google Scholar

Mack LM, Lee W, Mastrobattista JM, Belfort MA, Van den Veyver IB, Shamshirsaz AA, et al. Are first trimester nuchal septations independent risk factors for chromosomal anomalies? J Ultrasound Med. 2017; 36(1): 155-161.MackLMLeeWMastrobattistaJMBelfortMAVanden Veyver IBShamshirsazAAet alAre first trimester nuchal septations independent risk factors for chromosomal anomalies?J Ultrasound Med201736115516110.7863/ultra.16.01066Search in Google Scholar

Khalil A, Mahmoodian N, Kulkarni A, Homfray T, Papageorghiou A, Bhide A, et al. Estimation of detection rates of aneuploidy in high-risk pregnancy using an approach based on nuchal translucency and non-invasive prenatal testing: A cohort study. Fetal Diagn Ther. 2015; 38(4): 254-261.KhalilAMahmoodianNKulkarniAHomfrayTPapageorghiouABhideAet alEstimation of detection rates of aneuploidy in high-risk pregnancy using an approach based on nuchal translucency and non-invasive prenatal testing: A cohort studyFetal Diagn Ther201538425426110.1159/000381182Search in Google Scholar

Grande M, Jansen FA, Blumenfeld YJ, Fisher A, Odibo AO, Haak MC, et al. Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: A systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2015; 46(6): 650-658.GrandeMJansenFABlumenfeldYJFisherAOdiboAOHaakMCet alGenomic microarray in fetuses with increased nuchal translucency and normal karyotype: A systematic review and meta-analysisUltrasound Obstet Gynecol201546665065810.1002/uog.14880Search in Google Scholar

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2 volte all'anno
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Medicine, Basic Medical Science, other