A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum

Molecular Cytogenetics

Volumn 4, Issue 1, 2011, Pages

  Lall, Meena ^a   Thakur, Seema ^a   Puri, Ratna ^a   Verma, Ishwar ^a   Mukerji, Mithali ^b   Jha, Pankaj ^b  

^a SIR GANGA RAM HOSPITAL   (India)

^b CSIR INSTITUTE OF GENOMICS AND INTEGRATIVE BIOLOGY   (India)

Author keywords

corpus callosum agenesis; laryngomalacia; monosomy1q44; partial trisomy 11q

Indexed keywords

AMIKACIN; CEFOTAXIME; INFUSION FLUID;

ABDOMINAL DISTENSION; ANUS DISEASE; ARTICLE; BIRTH WEIGHT; CASE REPORT; CESAREAN SECTION; CHILD; CHROMOSOME 11Q; CHROMOSOME 1Q; COPY NUMBER VARIATION; CORPUS CALLOSUM AGENESIS; DYSPHAGIA; ECHOCARDIOGRAPHY; FACE DYSMORPHIA; FEMALE; FEVER; FLUORESCENCE IN SITU HYBRIDIZATION; GASTROESOPHAGEAL REFLUX; GENE DELETION; GENE DUPLICATION; GENETIC ASSOCIATION; GENOTYPE; GESTATIONAL AGE; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HEART ATRIUM SEPTUM DEFECT; HEART MURMUR; HOSPITAL ADMISSION; HUMAN; HUMAN CELL; INFANTILE HYPOTONIA; JAUNDICE; KARYOTYPE 46,XX; KARYOTYPE 46,XY; LARYNGOMALACIA; LETHARGY; LEUKOCYTE COUNT; MICROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOPENIA; OUTCOME ASSESSMENT; PALPEBRAL FISSURE ANOMALY; PATENT DUCTUS ARTERIOSUS; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; RADIOGRAPHY; RESPIRATORY DISTRESS; SEIZURE; SEPTICEMIA; SINGLE NUCLEOTIDE POLYMORPHISM; SPONTANEOUS ABORTION; STRIDOR; SUPINE POSITION; THROMBOCYTE COUNT; VOMITING;

EID: 80053172891     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-4-19     Document Type: Article

References (27)

1. National Organization for Rare Disorders (NORD) Copyright 1995-2011. Chromosome 11, Partial Trisomy 11q, http://www.rarediseases.org/rare-disease- information/rare-diseases/byID/1021
2. Duplication 11(q21 to 23qter) syndrome. Francke U, Weber F, Sparkes RS, Mattson PD, Mann J, Birth Defects 1977 13 3B 167 186 890090
3. At least nine cases of trisomy 11q23-qter in one generation as a result of familial t (11;13) translocation. Dominique S, Conny VR, Joke dP, Klasien GS, Jan V, Guus J, Arie S, J Med Genet 1997 34 18 23 10.1136/jmg.34.1.18 9032644
4. Upper airway malformation associated with trisomy 11q. Hui-quan Z, Alan FR, Howard MS, Ruthann I, Blough P, Hopkin RJ, Am J Med Genet Part a 2003 120A 3 331 337 10.1002/ajmg.a.20134 12838551 (Pubitemid 37063767)
5. Multiple Congenital anomaly/Mental Retardation (MCA/MR) Syndromes. Chromosome 1q deletion syndrome, Archives of U.S. National Library of Medicine, National Institute of Health http://www.nlm.nih.gov/archive/20061212/mesh/ jablonski/mesh/jablonski/syndrome-db.html Archived in December 2006
6. Submicroscopic subtelomeric1qter deletions: a recognizable phenotype? De Vries BBA, Knight S, Homray T, Smithson SF, Flint J, Winter RM, J Med Genet 2001 38 175 178 10.1136/jmg.38.3.175 11303509
7. Diagnostic genomic profiling in mental retardation. De Vries BB, Pfundt R, Leisink M, Koolen A, Vissers LE, Janssen IM, Reijmersdal S, Nillesen WM, Huys EH, Leeuw N, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, van Kessel AG, Schoehmakers EF, Veltman JA, Am J Hum Genet 2005 77 606 616 10.1086/491719 16175506 (Pubitemid 41361607)
8. Genetic and Functional analyses identify DISC1 as a novel callosal agenesis candidate gene. Osbun N, Li J, O'Driscoll MC, Stominger Z, Wakahiro M, Rider E, Bukshpun P, Boland E, Spurrell CH, Schackwitz W, Pennacchio LA, Dobyns WB, Black GC, Sherr EH, Am J Med Genet Part A 2011
9. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in post natal microcephaly and agenesis of corpus calloum. Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatick D, Millen KJ, Sherr EH, Dobyns WB, Black GC, Am J Hum Genet 2007 81 2 292 303 10.1086/519999 17668379 (Pubitemid 47236077)
10. A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis. Joris A, Jean-christophe C, Benedicte DB, Joriot-Chekaf S, Dieux-Coeslier A, Manouvrier-Hanu S, Delobel B, Vallee L, Eur J Med Genet 2008 51 1 87 91 10.1016/j.ejmg.2007.10.004 18053786 (Pubitemid 351163185)
11. Corpus Callosum Abnormalities and the Controversy about the Candidate Genes Located in 1q44. Orellana C, Rosellá M, Monfort S, Oltra S, Quiroga R, Ferrer I, Martinez F, Cytogenet Genome Res 2009 127 5 8 10.1159/000279261 20110648
12. Clinical and molecular characteristics of 1qter Syndrome: delineating a critical region for corpus callosum agenesis/hypo genesis: Van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, De Gregori M, Novara F, Grasso R, Ciccone R, van Duyvenvoorde HA, Guerrini R, Fazzi E, Nillesen WM, McCullough, Kant SG, Marcelis, Pfundt R, LeeuwN de, Smeets D, Sistermans EA, Wit JM, Hamel BC, Brunner HG, Kooy F, Zuffardi O, de Vries BBA, J Med Genet 2008 45 6 346 54 10.1136/jmg.2007.055830 18178631 (Pubitemid 351839475)
13. Derivative Chromosome 1 and GLUT1 deficiency syndrome in a sibling pair. Aktas D, Utine EG, Mrasek K, Weise A, Eggeling FV, Yalaz K, Posorski N, Akarsu N, Alikasifoglu M, Liehr T, Tuncbilek E, Molecular Cytogenetics 2010 3 10 2 7 20181117
14. Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.44 Mb deletion in region 1q44 containing the HNRPU gene. Caliebe A, Kroes HY, van der Smagt JJ, Martin-Subero JI, Tonnies H, van 't Slot R, Nievelstein RA, Muhle H, Stephani U, Alfke K, Stefanova I, Hellenbroich Y, Gillessen-Kaesbach G, Hochstenbach R, Siebert R, Poot M, Eur J Med Genet 2010 53 4 179 85 10.1016/j.ejmg.2010.04.001 20382278
15. Lymphocyte culture. Clouston HJ, Human Cytogenetic constitutional Analysis Oxford New York: Oxford University Press, Rooney D, 3 2001 33 54
16. An international System for Human Cytogenetic Nomenclature. (ISCN) 2009. Shaffer LG, Slovak ML, Campbell LJ, S Karger, Basel 2009
17. Mullti-Telomere FISH: Knight S, Flint J, Molecular Cytogenetics: Protocols and applications Tolowa N J: Humana Press Inc, Fan YS, 2002
18. Whole-genome geno-typing with the single-base extension assay. Steemers FJ, Chang W, Lee G, Barker DL, Shen R, Gunderson KL, Nat Methods 2006 3 31 33 10.1038/nmeth842 16369550 (Pubitemid 43135346)
19. PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Wang K, Li M, Hadley D, Liu R, Glessner J, Grant S, Hakonarson H, Bucan M, Genome Research 2007 17 1665 1674 10.1101/gr.6861907 17921354 (Pubitemid 350074862)
20. The UCSC Genome Browser database: update 2011. Fujita PA, Rhead B, Zweig AS, Hinrichs AS, Karolchik D, Cline MS, Goldman M, Barber GP, Clawson H, Coelho A, Diekhans M, Dreszer TR, Giardine BM, Harte RA, Hillman-Jackson J, Hsu F, Kirkup V, Kuhn RM, Learned K, Li CH, Meyer LR, Pohl A, Raney BJ, Rosenbloom KR, Smith KE, Haussler D, Kent WJ, Nucleic Acids Res 2011 39 Database 876 82 Epub 2010 Oct 18
21. The 11q;22q translocation: A collaborative of 20 new cases and analysis of 110 families. Iselius L, Lindsten J, Anrias A, Fraccaro M, Bastard C, Botelli AM, Bui TH, Cauffin D, Dalpra L, Dependi N, Hum Genet 1983 64 345 355
22. Prenatal Diagnosis of Isolated laryngeal Atresia. Case Report and Literature review. Ragip AA, Emine S, Guvendag G, Zuhal A, Meral SY, Omer K, J Ultrasound Med 2007 26 1243 1249 17715321
23. Delineation of cryptic 1qter deletion phenotype. Merritt JL, Ying Z, Jalal SM, Michel SV, J Med Genet 2009 46 123 131 19015223
24. Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype. van Bever Y, Rooms L, Laridon A, Reyniers E, van Luijk R, Scheers S, Wauters J, Kooy RF, Am J Med Genet A 2005 135 91 95 15822126 (Pubitemid 40627672)
25. AKT3 as a candidate gene for corpus callosum anomalies in patients with 1q44 deletions. Poot M, Kroes HY, Hochstenbach R, Eur J Med Genet 2008 51 689 690 10.1016/j.ejmg.2008.07.001 18675946
26. Unique deletion 1q42: phenotype-genotype correlation in a patient with corpus callosum agenesis and MCA. Filges I, Roesthlisberger B, Boesch N, Weber P, Huber AR, Heinimann K, Miny P, Am J Med Genet A 2010 152A 4 987 93 10.1002/ajmg.a.33330 20358614
27. Chromosome 1q42 deletion and agenesis of the corpus callosum. Puthuran M, Rowland-Hill C, Simpson J, Pairaudeau P, Mabbott J, Morris S, Crow YJ, Am J Med Genet A 2005 138 1 68 9 16097003 (Pubitemid 41262649)