Prenatal diagnosis of Miller‐Dieker syndrome by ultrasound and molecular cytogenetic analysis
2007; Wiley; Volume: 72; Issue: 5 Linguagem: Inglês
10.1111/j.1399-0004.2007.00830.x
ISSN1399-0004
AutoresElisabetta Lenzini, G. D’Ottavio, Angelo Città, Daniela Gambel Benussi, Vincenzo Petix, Vanna Pecile,
Tópico(s)Prenatal Screening and Diagnostics
ResumoClinical GeneticsVolume 72, Issue 5 p. 487-489 Prenatal diagnosis of Miller-Dieker syndrome by ultrasound and molecular cytogenetic analysis Elisabetta Lenzini, Corresponding Author Elisabetta Lenzini Molecular Cytogenetics Lab, Pediatrics Department, University of Padua, Padua, ItalyElisabetta LenziniMolecular Cytogenetics LabPediatrics Department,University of Padua,Via Giustiniani 335128 PaduaItalyTel.: 0039 049 8213521Fax: 0039 049 8213502e-mail: [email protected]Search for more papers by this authorGiuseppina D’Ottavio, Giuseppina D’Ottavio Obstetrics and Gynecology Department, I.R.C.C.S. ‘Burlo Garofolo’, Trieste, ItalySearch for more papers by this authorAngelo Città, Angelo Città Institute of PathologySearch for more papers by this authorDaniela Gambel Benussi, Daniela Gambel Benussi Genetics Service, I.R.C.C.S. ‘Burlo Garofolo’, Trieste, ItalySearch for more papers by this authorVincenzo Petix, Vincenzo Petix Genetics Service, I.R.C.C.S. ‘Burlo Garofolo’, Trieste, ItalySearch for more papers by this authorVanna Pecile, Vanna Pecile Genetics Service, I.R.C.C.S. ‘Burlo Garofolo’, Trieste, ItalySearch for more papers by this author Elisabetta Lenzini, Corresponding Author Elisabetta Lenzini Molecular Cytogenetics Lab, Pediatrics Department, University of Padua, Padua, ItalyElisabetta LenziniMolecular Cytogenetics LabPediatrics Department,University of Padua,Via Giustiniani 335128 PaduaItalyTel.: 0039 049 8213521Fax: 0039 049 8213502e-mail: [email protected]Search for more papers by this authorGiuseppina D’Ottavio, Giuseppina D’Ottavio Obstetrics and Gynecology Department, I.R.C.C.S. ‘Burlo Garofolo’, Trieste, ItalySearch for more papers by this authorAngelo Città, Angelo Città Institute of PathologySearch for more papers by this authorDaniela Gambel Benussi, Daniela Gambel Benussi Genetics Service, I.R.C.C.S. ‘Burlo Garofolo’, Trieste, ItalySearch for more papers by this authorVincenzo Petix, Vincenzo Petix Genetics Service, I.R.C.C.S. ‘Burlo Garofolo’, Trieste, ItalySearch for more papers by this authorVanna Pecile, Vanna Pecile Genetics Service, I.R.C.C.S. ‘Burlo Garofolo’, Trieste, ItalySearch for more papers by this author First published: 10 September 2007 https://doi.org/10.1111/j.1399-0004.2007.00830.xCitations: 8Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Ertl-Wagner B, Rummeny C, Reiser MF. Congenital malformations of the cerebral brain. 1: Malformations of the cerebral cortex. Radiologe 2003: 43 (11): 915–924. 10.1007/s00117-003-0974-8 CASPubMedWeb of Science®Google Scholar 2 Ghai S, Fong KW, Toi A et al. Prenatal US and MR imaging findings of lissencephaly: review of fetal cerebral sulcal development. Radiographics 2006: 26 (2): 389–405. 10.1148/rg.262055059 PubMedWeb of Science®Google Scholar 3 Sheen VL, Ferland RJ, Neal J et al. Neocortical neuronal arrangement in Miller Dieker syndrome. Acta Neuropathol (Berl) 2006: 111 (5): 489–496. 10.1007/s00401-005-0010-3 PubMedWeb of Science®Google Scholar 4 Cardoso C, Leventer RJ, Ward HL et al. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller–Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet 2003: 72 (4): 918–930. 10.1086/374320 CASPubMedWeb of Science®Google Scholar 5 Chen SJ, Peng SS, Kuo MF et al. Miller–Dieker syndrome associated with tight filum terminale. Pediatr Neurol 2006: 34 (3): 228–230. 10.1016/j.pediatrneurol.2005.06.017 PubMedWeb of Science®Google Scholar 6 Schinzel A, Niedrist D. Chromosome imbalances associated with epilepsy. Am J Med Genet 2001: 106 (2): 119–124. 10.1002/ajmg.1576 CASPubMedWeb of Science®Google Scholar 7 Sheen VL, Ferland RJ, Harney M et al. Impaired proliferation and migration in human Miller–Dieker neural precursors. Ann Neurol 2006: 60 (1): 137–144. 10.1002/ana.20843 CASPubMedWeb of Science®Google Scholar 8 Toyo-oka K, Hirotsune S, Gambello MJ et al. Loss of the Max-interacting protein Mnt in mice results in decreased viability, defective embryonic growth and craniofacial defects: relevance to Miller–Dieker syndrome. Hum Mol Genet 2004: 13 (10): 1057–1067. 10.1093/hmg/ddh116 CASPubMedWeb of Science®Google Scholar 9 Bahi-Buisson N, Ville D, Eisermann M et al. Epilepsy in chromosome aberrations. Arch Pediatr 2005: 12 (4): 449–458. 10.1016/j.arcped.2004.12.016 CASPubMedWeb of Science®Google Scholar 10 Fong KW, Ghai S, Toi A et al. Prenatal ultrasound findings of lissencephaly associated with Miller–Dieker syndrome and comparison with pre- and postnatal magnetic resonance imaging. Ultrasound Obstet Gynecol 2004: 24 (7): 716–723. 10.1002/uog.1777 CASPubMedWeb of Science®Google Scholar 11 Kumada T, Ito M, Miyajima T et al. Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy. Brain Dev 2005: 27 (2): 127–134. 10.1016/j.braindev.2003.12.010 PubMedWeb of Science®Google Scholar 12 Thomas MA, Duncan AM, Bardin C et al. Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat. Am J Med Genet A 2004: 124 (3): 292–295. 10.1002/ajmg.a.20373 Web of Science®Google Scholar 13 Elias RC, Galera MF, Schnabel B et al. Deletion of 17p13 and LIS1 gene mutation in isolated lissencephaly sequence. Pediatr Neurol 2006: 35 (1): 42–46. 10.1016/j.pediatrneurol.2005.12.001 PubMedWeb of Science®Google Scholar 14 Chong SS, Pack SD, Roschke AV et al. A revision of the lissencephaly and Miller–Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet 1997: 6 (2): 147–155. 10.1093/hmg/6.2.147 CASPubMedWeb of Science®Google Scholar 15 Toyo-oka K, Shionoya A, Gambello MJ et al. 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller–Dieker syndrome. Nat Genet 2003: 34 (3): 274–285. 10.1038/ng1169 CASPubMedWeb of Science®Google Scholar 16 Yingling J, Toyo-Oka K, Wynshaw-Boris A. Miller–Dieker syndrome: analysis of a human contiguous gene syndrome in the mouse. Am J Hum Genet 2003: 73 (3): 475–488. 10.1086/378096 CASPubMedWeb of Science®Google Scholar 17 Chabchoub E, De Ravel T, Thoelen R et al. Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly. Clin Genet 2006: 70 (6): 535–537. 10.1111/j.1399-0004.2006.00718.x CASPubMedWeb of Science®Google Scholar 18 Saltzman DH, Krauss CM, Goldman JM, Benacerraf BR. Prenatal diagnosis of lissencephaly. Prenat Diagn 1991: 11 (3): 139–143. 10.1002/pd.1970110302 CASPubMedWeb of Science®Google Scholar 19 Stratton RF, Dobyns WB, Airhart SD et al. New chromosomal syndrome: Miller–Dieker syndrome and monosomy 17p13. Hum Genet 1984: 67 (2): 193–200. 10.1007/BF00273000 CASPubMedWeb of Science®Google Scholar 20 Van Zelderen-Bhola SL, Breslau-Siderius EJ, Beverstock GC et al. Prenatal and postnatal investigation of a case with Miller–Dieker syndrome due to a familial cryptic translocation t(17;20) (p13.3;q13.3) detected by fluorescence in situ hybridization. Prenat Diagn 1997: 17 (2): 173–179. 10.1002/(SICI)1097-0223(199702)17:2 3.0.CO;2-V CASPubMedWeb of Science®Google Scholar 21 Mutchinick OM, Shaffer LG, Kashork CD et al. Miller–Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci. Am J Med Genet 1999: 85 (2): 99–104. 10.1002/(SICI)1096-8628(19990716)85:2 3.0.CO;2-W CASPubMedWeb of Science®Google Scholar Citing Literature Volume72, Issue5November 2007Pages 487-489 ReferencesRelatedInformation
Referência(s)