| 1 | DEL1Q44, HNRNPU
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| Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly - A case report.
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| Westphal DS, Andres S, Beitzel KI, Makowski C, Meitinger T, Hoefele J.
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| Gene 616:41-44. doi: 10.1016/j.gene.2017.03.025. Epub 2017 Mar 21.
2017
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| 2 | DEL1Q44, HNRNPU
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| Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
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| Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G; DDD Study, Attié-Bitach T, Boutaud L, Héron D, Mignot C.
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| Hum Genet 136(4):463-479. doi: 10.1007/s00439-017-1772-0. Epub 2017 Mar 10.
2017
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| 3 | DEL1Q44, ZBTB18
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| A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
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| de Munnik SA, García-Miñaúr S, Hoischen A, van Bon BW, Boycott KM, Schoots J, Hoefsloot LH, Knoers NV, Bongers EM, Brunner HG.
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| Eur J Hum Genet 22(6):844-6. doi: 10.1038/ejhg.2013.249. Epub 2013 Nov 6.
2014
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| 4 | DEL1Q44, ZBTB18
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| Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.
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| Perlman SJ, Kulkarni S, Manwaring L, Shinawi M.
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| Am J Med Genet A 161(4):711-6. doi: 10.1002/ajmg.a.35779. Epub 2013 Mar 12. 2013
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| 5 | COX20, DEL1Q44, HNRNPU
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| Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
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| Thierry G, Bénéteau C, Pichon O, Flori E, Isidor B, Popelard F, Delrue MA, Duboscq-Bidot L, Thuresson AC, van Bon BW, Cailley D, Rooryck C, Paubel A, Metay C, Dusser A, Pasquier L, Béri M, Bonnet C, Jaillard S, Dubourg C, Tou B, Quéré MP, Soussi-Zander C, Toutain A, Lacombe D, Arveiler B, de Vries BB, Jonveaux P, David A, Le Caignec C.
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| Am J Med Genet A 158A(7):1633-40. doi: 10.1002/ajmg.a.35423. Epub 2012 Jun 7. 2012
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| 6 | AKT3, C1ORF199, COX20, DEL1Q44, DEL1QD, HNRNPU, ZBTB18
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| High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
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| Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG.
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| Hum Genet um Genet. 2011 Jul 29. [Epub ahead of print] 2011
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| 7 | DEL1Q44, HNRNPU, HNRPU
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| Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.
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| Caliebe A, Kroes HY, van der Smagt JJ, Martin-Subero JI, Tönnies 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.
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| Eur J Med Genet 53(4):179-85. Epub 2010 Apr 9.PMID: 20382278 2010
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| 8 | DEL1Q44
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| Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome.
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| Lam AC, Lai KK, Chau AT, Lo IF, Lam ST.
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| Clin Genet 76(1):102-7. Epub 2009 Jun 4. No abstract available. 2009
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| 9 | DEL1Q44
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| Polymorphic subtelomeric deletion 1q demonstrates the need to reevaluate subtelomere screening methods: determination of the boundary between pathogenic deletion and benign variant for subtelomere 1q.
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| Roos A, Eggermann T, Zerres K, SchŸler HM.
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| Am J Med Genet A 146(6):795-8. No abstract available. 2008
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| 10 | DEL1Q44, XXTD
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| Atypical XX male with the SRY gene located at the long arm of chromosome 1 and a 1qter microdeletion.
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| Queralt R, Madrigal I, Vallecillos MA, Morales C, Ballesc‡ JL, Oliva R, Soler A, S‡nchez A, Margarit E.
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| Am J Med Genet A 146(10):1335-40. 2008
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| 11 | AKT3, DEL1Q44
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| Clinical and Molecular Characteristics of 1qter Syndrome: Delineating a Critical Region for corpus callosum agenesis/hypogenesis.
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| 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, Aalbers AM, Guerrini R, Fazzi E, Nillesen WM, McCullough S, Kant SG, Marcelis CL, Pfundt R, de Leeuw N, Smeets D, Sistermans EA, Wit JM, Hamel BC, Brunner HG, Kooy F, Zuffardi O, de Vries BB.
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| J Med Genet 45:346-354 2008
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| 12 | DEL1Q44
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| Two new cases of pure 1q terminal deletion presenting with brain malformations.
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| Hiraki Y, Okamoto N, Ida T, Nakata Y, Kamada M, Kanemura Y, Yamasaki M, Fujita H, Nishimura G, Kato M, Harada N, Matsumoto N.
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| Am J Med Genet A 146A(10):1241-7. 2008
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| 13 | DEL1Q44
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| Delineation of the cryptic 1qter deletion phenotype.
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| Merritt JL 2nd, Zou Y, Jalal SM, Michels VV.
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| Am J Med Genet A 143(6):599-603. 2007
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| 14 | DEL1Q44
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| Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33).
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| Poot M, Kroes HY, V D Wijst SE, Eleveld MJ, Rooms L, Nievelstein RA, Olde Weghuis D, Vreuls RC, Hageman G, Kooy F, Hochstenbach R.
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| Am J Med Genet A 143(10):1038-44. 2007
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| 15 | DEL1Q44
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| A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome.
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| Hill AD, Chang BS, Hill RS, Garraway LA, Bodell A, Sellers WR, Walsh CA.
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| Am J Med Genet A 143(15):1692-8. 2007
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| 16 | DEL1Q44
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| Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum
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| Elena Boland, Jill Clayton-Smith, Victoria G. Woo, Shane McKee, Forbes D. C. Manson, Livija Medne, Elaine Zackai, Eric A. Swanson, David Fitzpatrick, Kathleen J. Millen, Elliott H. Sherr, William B. Dobyns, and Graeme C. M. Black.
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| Am. J. Hum. Genet., 81:292-303, 2007
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| 17 | DEL1Q44
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| Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.
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| van Bever Y, Rooms L, Laridon A, Reyniers E, van Luijk R, Scheers S, Wauters J, Kooy RF.
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| Am J Med Genet A 135(1):91-5. Review. 2005
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| 18 | DEL1P36, DEL1Q44, DEL2Q37
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| Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: a cause of minute terminal chromosomal imbalances.
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| Daniel A, Baker E, Chia N, Haan E, Malafiej P, Hinton L, Clarke N, Ades L, Darmanian A, Callen D.
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| Am J Med Genet 117A(1):57-64. Review. 2003
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| 19 | DEL1Q44
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| FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications.
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| Gentile M, Di Carlo A, Volpe P, Pansini A, Nanna P, Valenzano MC, Buonadonna AL.
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| Am J Med Genet A 117(3):251-4. 2003
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| 20 | DEL1Q44
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| Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?
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| De Vries BB, Knight SJ, Homfray T, Smithson SF, Flint J, Winter RM.
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| J Med Genet 38(3):175-8. No abstract available. 2001
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| 21 | DEL1Q44, DUP1QD
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| Monosomy and trisomy 1q44-qter in two sisters originating from a half cryptic 1q;15p translocation.
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| Villa N, Sala E, Colombo D, Dell'Orto M, Dalpra L.
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| J Med Genet 37(8):612-5. No abstract available. 2000
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| 22 | DEL1Q44
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| A specific syndrome due to deletion of the distal long arm of chromosome 1.
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| Meinecke P, Vogtel D.
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| Am J Med Genet 28(2):371-6. Review. 1987
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| 23 | DEL1Q44
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| Deletion of the distal long arm of chromosome 1: a definable syndrome.
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| Johnson VP, Heck LJ, Carter GA, Flom JO.
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| Am J Med Genet 22(4):685-94. 1985
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| 24 | DEL1Q44
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| [Distal 1q monosomy. 2 new cases and description of the syndrome]
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| Turleau C, de Grouchy J, Frezal J, Richardet JM.
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| Ann Genet 26(3):161-4. French. 1983
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| 25 | DEL1Q44
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| Terminal (1)(q43) long-arm deletion of chromosome no. 1 in a three-year-old female.
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| Mankinen CB, Sears JW, Alvarez VR.
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| Birth Defects Orig Artic Ser 12(5):131-6. 1976
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