Voltar
Carta Revisado por pares
BIBTEX RIS

De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray‐based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly

2013; Wiley; Volume: 161; Issue: 3 Linguagem: Inglês

10.1002/ajmg.a.35777

ISSN

1552-4833

Autores

Nicoletta Resta, Lucrezia De Cosmo, Francesco Susca, Donatella Capodiferro, Anna Maria Nardone, Diana Pastorivo, Marta Bértoli, Carmela Serlenga, MariaGabriella Burattini, F Schettini, Nicola Laforgia,

Tópico(s)

Genomics and Rare Diseases

Resumo

American Journal of Medical Genetics Part AVolume 161, Issue 3 p. 632-636 Research Letter De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly† Nicoletta Resta, Corresponding Author Nicoletta Resta [email protected] Sez. di Genetica Medica, Dipartimento di Scienze Biomediche ed Oncologia Umana, Università degli Studi di Bari “A. Moro”, Bari, ItalySezione di Genetica Medica, Dipartimento di Scienze Biomediche ed Oncologia Umana, Università degli Studi di Bari “A. Moro”, Piazza G. Cesare 11, Bari 70121, Italy.Search for more papers by this authorLucrezia De Cosmo, Lucrezia De Cosmo Sez.Neonatologia e Terapia Intensiva Neonatale, Dipartimento di Ginecologia Ostetricia e Neonatologia, Università degli Studi di Bari “A. Moro”, Bari, ItalySearch for more papers by this authorFrancesco Claudio Susca, Francesco Claudio Susca Sez. di Genetica Medica, Dipartimento di Scienze Biomediche ed Oncologia Umana, Università degli Studi di Bari “A. Moro”, Bari, ItalySearch for more papers by this authorDonatella Capodiferro, Donatella Capodiferro Sez.Neonatologia e Terapia Intensiva Neonatale, Dipartimento di Ginecologia Ostetricia e Neonatologia, Università degli Studi di Bari “A. Moro”, Bari, ItalySearch for more papers by this authorAnna Maria Nardone, Anna Maria Nardone Department of Medical Genetics, Tor Vergata University of Rome, Rome, ItalySearch for more papers by this authorDiana Pastorivo, Diana Pastorivo Department of Medical Genetics, Tor Vergata University of Rome, Rome, ItalySearch for more papers by this authorMarta Bertoli, Marta Bertoli Research Center and Medical Genetics Center, S. Pietro Fatebenefratelli Hospital, Rome, ItalySearch for more papers by this authorCarmela Serlenga, Carmela Serlenga Sez.Neonatologia e Terapia Intensiva Neonatale, Dipartimento di Ginecologia Ostetricia e Neonatologia, Università degli Studi di Bari “A. Moro”, Bari, ItalySearch for more papers by this authorMariaGabriella Burattini, MariaGabriella Burattini Sez.Neonatologia e Terapia Intensiva Neonatale, Dipartimento di Ginecologia Ostetricia e Neonatologia, Università degli Studi di Bari “A. Moro”, Bari, ItalySearch for more papers by this authorFederico Schettini, Federico Schettini Sez.Neonatologia e Terapia Intensiva Neonatale, Dipartimento di Ginecologia Ostetricia e Neonatologia, Università degli Studi di Bari “A. Moro”, Bari, ItalySearch for more papers by this authorNicola Laforgia, Nicola Laforgia Sez.Neonatologia e Terapia Intensiva Neonatale, Dipartimento di Ginecologia Ostetricia e Neonatologia, Università degli Studi di Bari “A. Moro”, Bari, ItalySearch for more papers by this author Nicoletta Resta, Corresponding Author Nicoletta Resta [email protected] Sez. di Genetica Medica, Dipartimento di Scienze Biomediche ed Oncologia Umana, Università degli Studi di Bari “A. Moro”, Bari, ItalySezione di Genetica Medica, Dipartimento di Scienze Biomediche ed Oncologia Umana, Università degli Studi di Bari “A. Moro”, Piazza G. Cesare 11, Bari 70121, Italy.Search for more papers by this authorLucrezia De Cosmo, Lucrezia De Cosmo Sez.Neonatologia e Terapia Intensiva Neonatale, Dipartimento di Ginecologia Ostetricia e Neonatologia, Università degli Studi di Bari “A. Moro”, Bari, ItalySearch for more papers by this authorFrancesco Claudio Susca, Francesco Claudio Susca Sez. di Genetica Medica, Dipartimento di Scienze Biomediche ed Oncologia Umana, Università degli Studi di Bari “A. Moro”, Bari, ItalySearch for more papers by this authorDonatella Capodiferro, Donatella Capodiferro Sez.Neonatologia e Terapia Intensiva Neonatale, Dipartimento di Ginecologia Ostetricia e Neonatologia, Università degli Studi di Bari “A. Moro”, Bari, ItalySearch for more papers by this authorAnna Maria Nardone, Anna Maria Nardone Department of Medical Genetics, Tor Vergata University of Rome, Rome, ItalySearch for more papers by this authorDiana Pastorivo, Diana Pastorivo Department of Medical Genetics, Tor Vergata University of Rome, Rome, ItalySearch for more papers by this authorMarta Bertoli, Marta Bertoli Research Center and Medical Genetics Center, S. Pietro Fatebenefratelli Hospital, Rome, ItalySearch for more papers by this authorCarmela Serlenga, Carmela Serlenga Sez.Neonatologia e Terapia Intensiva Neonatale, Dipartimento di Ginecologia Ostetricia e Neonatologia, Università degli Studi di Bari “A. Moro”, Bari, ItalySearch for more papers by this authorMariaGabriella Burattini, MariaGabriella Burattini Sez.Neonatologia e Terapia Intensiva Neonatale, Dipartimento di Ginecologia Ostetricia e Neonatologia, Università degli Studi di Bari “A. Moro”, Bari, ItalySearch for more papers by this authorFederico Schettini, Federico Schettini Sez.Neonatologia e Terapia Intensiva Neonatale, Dipartimento di Ginecologia Ostetricia e Neonatologia, Università degli Studi di Bari “A. Moro”, Bari, ItalySearch for more papers by this authorNicola Laforgia, Nicola Laforgia Sez.Neonatologia e Terapia Intensiva Neonatale, Dipartimento di Ginecologia Ostetricia e Neonatologia, Università degli Studi di Bari “A. Moro”, Bari, ItalySearch for more papers by this author First published: 07 February 2013 https://doi.org/10.1002/ajmg.a.35777Citations: 6 † How to Cite this Article: Resta N, De Cosmo L, Susca FC, Capodiferro D, Nardone AM, Pastorivo D, Bertoli M, Serlenga C, Burattini M, Schettini F, Laforgia N. 2012. De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly. Am J Med Genet Part A 161A: 632–636. Read 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 Barbaro M, Balsamo A, Anderlid BM, Myhre AG, Gennari M, Nicoletti A, Pittalis MC, Oscarson M, Wedell A. 2009. Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLP. Eur J Hum Genet 17: 1439–1447. 10.1038/ejhg.2009.70 CASPubMedWeb of Science®Google Scholar Bhat M, Morrison PJ, Getty A, McManus D, Tubman R, Nevin NC. 2000. First clinical case of small de novo duplication of 19q (13. 3–13. 4) confirmed by FISH. Am J Med Genet 91: 201–203. 10.1002/(SICI)1096-8628(20000320)91:3 3.0.CO;2-Y CASPubMedWeb of Science®Google Scholar Boycott KM, Flavelle S, Bureau A, Glass HC, Fujiwara TM, Wirrell E, Davey K, Chudley AE, Scott JN, McLeod DR, Parboosingh JS. 2005. Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet 77: 477–483. 10.1086/444400 CASPubMedWeb of Science®Google Scholar Boycott KM, Bonnemann C, Herz J, Neuert S, Beaulieu C, Scott JN, Venkatasubramanian A, Parboosingh JS. 2009. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J Child Neurol 24: 1310–1315. 10.1177/0883073809332696 PubMedWeb of Science®Google Scholar Boyd E, Grass FS, Parke JC, Knutson K, Stevenson RE. 1992. Duplication of distal 19q: Clinical report and review. Am J Med Genet 42: 326–30. 10.1002/ajmg.1320420314 CASPubMedWeb of Science®Google Scholar Deloukas P, Schuler GD, Gyapay G, Beasley EM, Soderlund C, Rodriguez-Tomé P, Hui L, Matise TC, McKusick KB, Beckmann JS, Bentolila S, Bihoreau M, Birren BB, Browne J, Butler A, Castle AB, Chiannilkulchai N, Clee C, Day PJ, Dehejia A, Dibling T, Drouot N, Duprat S, Fizames C, Fox S, Gelling S, Green L, Harrison P, Hocking R, Holloway E, Hunt S, Keil S, Lijnzaad P, Louis-Dit-Sully C, Ma J, Mendis A, Miller J, Morissette J, Muselet D, Nusbaum HC, Peck A, Rozen S, Simon D, Slonim DK, Staples R, Stein LD, Stewart EA, Suchard MA, Thangarajah T, Vega-Czarny N, Webber C, Wu X, Hudson J, Auffray C, Nomura N, Sikela JM, Polymeropoulos MH, James MR, Lander ES, Hudson TJ, Myers RM, Cox DR, Weissenbach J, Boguski MS, Bentley DR. 1998. A physical map of 30,000 human genes. Science 282: 744–746. 10.1126/science.282.5389.744 CASPubMedWeb of Science®Google Scholar DeScipio C, Spinner NB, Kaur M, Yaeger D, Conlin LK, Ambrosini A, Hu S, Shan S, Krantz ID, Riethman H. 2008. Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals. Am J Med Genet Part A 146A: 730–739. 10.1002/ajmg.a.32216 CASPubMedWeb of Science®Google Scholar Dorn T, Riegel M, Schinzel A, Siegel AM, Krämer G. 2001. Epilepsy and trisomy 19q—Different seizure patterns in a brother and a sister. Epilepsy Res 47: 119–126. 10.1016/S0920-1211(01)00303-5 CASPubMedWeb of Science®Google Scholar Hauge X, Raca G, Cooper S, May K, Spiro R, Adam M, Martin CL. 2008. Detailed characterization of and clinical correlations in 10 patients with distal deletions of chromosome 9p. Genet Med 10: 599–611. 10.1097/GIM.0b013e31817e2bde PubMedWeb of Science®Google Scholar James C, Jauch A, Robson L, Watson N, Smith A. 1996. A 3½ year old girl with distal trisomy 19q defined by FISH. J Med Genet 33: 795–797. 10.1136/jmg.33.9.795 CASPubMedWeb of Science®Google Scholar Kini U, Hurst JA, Byren JC, Wall SA, Johnson D, Wilkie AO. 2010. Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit. Am J Med Genet Part A 152A: 1383–1389. 10.1002/ajmg.a.33435 CASPubMedWeb of Science®Google Scholar Kolb LE, Arlier Z, Yalcinkaya C, Ozturk AK, Moliterno JA, Erturk O, Bayrakli F, Korkmaz B, DiLuna ML, Yasuno K, Bilguvar K, Ozcelik T, Tuysuz B, State MW, Gunel M. 2010. Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. Neurogenetics 11: 319–325. 10.1007/s10048-009-0232-y PubMedWeb of Science®Google Scholar Lenzini E, Drigo P, Redaelli S, Mammi I, Rosa-Rizzotto M, Dalprà L. 2010. Familial subtelomeric rearrangement of chromosomes 19 and 20: A new contribution to partial distal 19q trisomy. Genet Test Mol Biomarkers 14: 695–701. 10.1089/gtmb.2010.0079 CASPubMedWeb of Science®Google Scholar Lisi EC, Cohn RD. 2011. Genetic evaluation of the pediatric patient with hypotonia: Perspective from a hypotonia specialty clinic and review of the literature. Dev Med Child Neurol 53: 586–599. 10.1111/j.1469-8749.2011.03918.x PubMedWeb of Science®Google Scholar Miller DT, Adam PT, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. 2010. Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86: 749–764. 10.1016/j.ajhg.2010.04.006 CASPubMedWeb of Science®Google Scholar Muroya K, Okuyama T, Goishi K, Ogiso Y, Fukuda S, Kameyama J, Sato H, Suzuki Y, Terasaki H, Gomyo H, Wakui K, Fukushima Y, Ogata T. 2000. Sex-determining gene(s) on distal 9p: Clinical and molecular studies in six cases. J Clin Endocrinol Metab 85: 3094–3100. 10.1210/jc.85.9.3094 CASPubMedWeb of Science®Google Scholar Praphanphoj V, Goodman BK, Thomas GH, Raymond GV. 2000. Cryptic subtelomeric translocations in the 22q13 deletion syndrome. J Med Genet 37: 58–61. 10.1136/jmg.37.1.58 CASPubMedWeb of Science®Google Scholar Puvabanditsin S, Garrow E, Brandsma E, Savla J, Kunjumon B, Gadi I. 2009. Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review. Am J Med Genet Part A 149A: 1782–1785. 10.1002/ajmg.a.32972 CASPubMedWeb of Science®Google Scholar Quorri M, Oei P, Dockery H, McGaughran J. 2002. A rare case of a de novo dup(19q) associated with a mild phenotype. J Med Genet 39: E61. 10.1136/jmg.39.10.e61 PubMedWeb of Science®Google Scholar Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL. 2006. Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 43: 478–489. 10.1136/jmg.2005.036350 CASPubMedWeb of Science®Google Scholar Rombout S, Sartenaer D, Parmentier B, Dugauquier C, Gillerot Y. 2004. A rare case of de novo distal 19q trisomy prenatally diagnosed. Prenat Diagn 24: 822–827. 10.1002/pd.995 CASPubMedWeb of Science®Google Scholar Sauter SM, Böhm D, Bartels I, Burfeind P, Laccone FA, Neesen J, Wilken B, Liehr T, Zoll B. 2007. Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay. Am J Med Genet Part A 143A: 1091–1099. 10.1002/ajmg.a.31686 CASPubMedWeb of Science®Google Scholar Schimd W. 1979. Trisomy for distal third of the long arm of chromosome 19 in brother and sister. Hum Genet 46: 263–270. 10.1007/BF00273309 PubMedWeb of Science®Google Scholar Schinzel AA, Basaran S, Bernasconi F, Karaman B, Yüksel-Apak M, Robinson WP. 1994. Maternal uniparental disomy 22 has no impact on the phenotype. Am J Hum Genet 54: 21–24. 10.1002/ajmg.1320540106 CASPubMedWeb of Science®Google Scholar Shimojima K, Yamamoto T. 2009. Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array-CGH. Am J Med Genet Part A 149A: 1076–1080. 10.1002/ajmg.a.32783 CASPubMedWeb of Science®Google Scholar Su PH, Kuo PL, Chen SJ, Huang SC, Chen JY, Hung HM. 2005. Six cases of deletion 9p24 and trisomy 19q13.4 inherited from a familial balanced translocation. J Fomos Med Assoc 104: 525–530. PubMedWeb of Science®Google Scholar Swinkels ME, Simons A, Smeets DF, Vissers LE, Veltman JA, Pfundt R, de Vries BB, Faas BH, Schrander-Stumpel CT, McCann E, Sweeney E, May P, Draaisma JM, Knoers NV, van Kessel AG, van Ravenswaaij-Arts CM. 2008. Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. Am J Med Genet Part A 146A: 1430–1438. 10.1002/ajmg.a.32310 CASPubMedWeb of Science®Google Scholar Tissir F, Goffinet AM. 2003. Reelin and brain development. Nat Rev Neursci 4: 496–505. 10.1038/nrn1113 CASPubMedWeb of Science®Google Scholar Zonana J, Brown MG, Magenis RE. 1982. Distal 19q duplication. Hum Genet 60: 267–270. 10.1007/BF00303015 CASPubMedWeb of Science®Google Scholar Citing Literature Volume161, Issue3March 2013Pages 632-636 ReferencesRelatedInformation

Referência(s)