Citations for
1DEL11QD, FLI1
SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome.
Trkova M, Becvarova V, Hynek M, Hnykova L, Hlavova E, Kreckova G, Kulovany E, Cutka D, Zatloukalova J, Markova K, Sukova M, Horacek J, Stejskal D.
Am J Med Genet A 158A(10):2545-50. doi: 10.1002/ajmg.a.35537. Epub 2012 Aug 7. 2012
2DEL11QD, KIRREL3, KIRREL3
Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome.
Guerin A, Stavropoulos DJ, Diab Y, Chénier S, Christensen H, Kahr WH, Babul-Hirji R, Chitayat D.
Am J Med Genet A 158A(10):2551-6. doi: 10.1002/ajmg.a.35621. Epub 2012 Sep 10. 2012
3DEL11QD, ETS1, HLHS2
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice.
Ye M, Coldren C, Liang X, Mattina T, Goldmuntz E, Benson DW, Ivy D, Perryman MB, Garrett-Sinha LA, Grossfeld P.
Hum Mol Genet 19(4):648-56. Epub 2009 Nov 26. 2010
4DEL11QD
Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption.
Fujita H, Yanagi T, Kosaki R, Torii C, Bamba M, Takahashi T, Kosaki K.
Am J Med Genet A 152A(4):1033-5. No abstract available. PMID: 20358622 2010
5DEL11QD, DEL7P21, DEL9P, DUP5Q35, FGFR2, FGFR3, MSX2, TWIST
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
Wilkie AO, Byren JC, Hurst JA, Jayamohan J, Johnson D, Knight SJ, Lester T, Richards PG, Twigg SR, Wall SA.
Pediatrics 126(2):e391-400. Epub 2010 Jul 19.PMID: 20643727 2010
6DEL11QD
Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay.
Ji T, Wu Y, Wang H, Wang J, Jiang Y.
J Hum Genet 55(8):486-9. Epub 2010 Jun 3.PMID: 20520618 2010
7DEL11QD
Two children with subtelomeric 11q deletions: a description and interpretation of their clinical presentations and molecular genetic findings.
Cox H, Lucassen A, Rio M, Browne C, Renforth G, Craven L, Salmon T, Wilson DI.
Clin Dysmorphol 18(2):98-102. 2009
8DEL11QD, DEL11QO
Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review.
Van Zutven LJ, van Bever Y, Van Nieuwland CC, Huijbregts GC, Van Opstal D, von Bergh AR, Corel LJ, Tibboel D, Wouters CH, Poddighe PJ.
Am J Med Genet A 149A(7):1468-1475. [Epub ahead of print] 2009
9DEL11QD, HLHS2, JAM3
Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice.
Ye M, Hamzeh R, Geddis A, Varki N, Perryman MB, Grossfeld P.
Am J Med Genet A 149A(7):1438-43. 2009
10BSX, DEL11QD, NRGN
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome).
Coldren CD, Lai Z, Shragg P, Rossi E, Glidewell SC, Zuffardi O, Mattina T, Ivy DD, Curfs LM, Mattson SN, Riley EP, Treier M, Grossfeld PD.
Neurogenetics 10(2):89-95. Epub 2008 Oct 15. 2009
11DEL11QD
Jacobsen syndrome.
Mattina T, Perrotta CS, Grossfeld P.
Orphanet J Rare Dis 4:9. Review. 2009
12BSX, DEL11QD
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome).
Coldren CD, Lai Z, Shragg P, Rossi E, Glidewell SC, Zuffardi O, Mattina T, Ivy DD, Curfs LM, Mattson SN, Riley EP, Treier M, Grossfeld PD.
Neurogenetics 10(2):89-95. Epub 2008 Oct 15. 2009
13DEL11QD, FLI1, TCDM
Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).
Bernaciak J, Szczałuba K, Derwińska K, Wiśniowiecka-Kowalnik B, Bocian E, Sasiadek MM, Makowska I, Stankiewicz P, Smigiel R.
Am J Med Genet A 146A(19):2449-54. 2008
14DEL11QD, DEL7P21, DEL9PD
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation.
Jehee FS, Krepischi-Santos AC, Rocha KM, Cavalcanti DP, Kim CA, Bertola DR, Alonso LG, D'Angelo CS, Mazzeu JF, Froyen G, Lugtenberg D, Vianna-Morgante AM, Rosenberg C, Passos-Bueno MR.
J Med Genet 45(7):447-50. Epub 2008 May 2. 2008
15DEL11QD
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.
Tyson C, Qiao Y, Harvard C, Liu X, Bernier FP, McGillivray B, Farrell SA, Arbour L, Chudley AE, Clarke L, Gibson W, Dyack S, McLeod R, Costa T, Vanallen MI, Yong SL, Graham GE, Macleod P, Patel MS, Hurlburt J, Holden JJ, Lewis SM, Rajcan-Separovic E.
Mol Cytogenet 1:23. 2008
16DEL11QD
Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome).
Foley P, McAuliffe F, Mullarkey M, Reardon W.
Clin Dysmorphol 16(3):177-179. 2007
17DEL11QD
An 11q terminal deletion and tetralogy of Fallot.
Podraza J, Fleenor J, Grossfeld P.
Am J Med Genet A 143(10):1126-8. No abstract available. 2007
18DEL11QD
Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: Further evidence for phenotypic heterogeneity.
Giampietro PF, Babu D, Zabel CA, Silberman T, Zador I, Debauche D, Ravnan JB, Dave BJ.
Am J Med Genet A 140A(4):385-387. 2006
19DEL11QD
Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion.
Bohm D, Hoffmann K, Laccone F, Wilken B, Dechent P, Frahm J, Bartels I, Bohlander SK.
Am J Med Genet A 140(4):378-82 2006
20DEL11QD
Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome.
Wenger SL, Grossfeld PD, Siu BL, Coad JE, Keller FG, Hummel M.
Am J Med Genet A 140(7):704-8. 2006
21DEL11QD, BWS
Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24).
Gadzicki D, Baumer A, Wey E, Happel CM, Rudolph C, Tonnies H, Neitzel H, Steinemann D, Welte K, Klein C, Schlegelberger B.
Ann Hum Genet 70(Pt 6):958-64. 2006
22DEL9P, DEL11QD
Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly.
Jehee FS, Johnson D, Alonso LG, Cavalcanti DP, de Sa Moreira E, Alberto FL, Kok F, Kim C, Wall SA, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR.
Clin Genet 67(6):503-10. 2005
23DEL11QD
The 11q terminal deletion disorder: a prospective study of 110 cases.
Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C.
Am J Med Genet A 129(1):51-61. 2004
24FLI1, TCDM, DEL11QD
FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia.
Raslova H, Komura E, Le Couedic JP, Larbret F, Debili N, Feunteun J, Danos O, Albagli O, Vainchenker W, Favier R.
J Clin Invest 114(1):77-84. 2004
25DEL11QD, HLHS2, JAM3
Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis.
Phillips HM, Renforth GL, Spalluto C, Hearn T, Curtis AR, Craven L, Havarani B, Clement-Jones M, English C, Stumper O, Salmon T, Hutchinson S, Jackson MS, Wilson DI.
Genomics 79(4):475-8. 2002
26FRA11B, DEL11QD
Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage.
Jones C, Mullenbach R, Grossfeld P, Auer R, Favier R, Chien K, James M, Tunnacliffe A, Cotter F.
Hum Mol Genet 9(8):1201-8. 2000
27DEL11QD
Interstitial deletion of bands 11q21-->22.3 in a three-year-old girl defined using fluorescence in situ hybridization on metaphase chromosomes.
Horelli-Kuitunen N, Gahmberg N, Eeva M, Palotie A, Jarvela I.
Am J Med Genet 86(5):416-9 1999
28DEL11QD
Localization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11q.
Tunnacliffe A, Jones C, Le Paslier D, Todd R, Cherif D, Birdsall M, Devenish L, Yousry C, Cotter FE, James MR.
Genome Res 9(1):44-52. 1999
29DEL11QD
Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B.
Michaelis RC, Velagaleti GV, Jones C, Pivnick EK, Phelan MC, Boyd E, Tarleton J, Wilroy RS, Tunnacliffe A, Tharapel AT.
Am J Med Genet 76(3):222-8. 1998
30DEL11QD
Jacobsen syndrome : report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11(q23q25) and review of 52 cases.
Pivnick EK, et al.
J Med Genet 33 : 772-778. 1996
31DEL11QD
Two craniosynostotic patients with 11q deletions, and review of 48 cases.
Lewanda AF, Morsey S, Reid CS, Jabs EW.
Am J Med Genet 59 : 193-198. 1995
32DEL11QD, CBL, FRA11B
Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2.
Jones C, et al.
Nature 376 : 145-149. 1995
33TCDM, DEl11QD
A new congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23.
Breton-Gorius J, et al.
Blood 85(7):1805-14. 1995
34DEL11QD
Clinical and molecular characterization of patients with distal 11q deletions.
Penny LA, Dell'Aquila M, Jones MC, Bergoffen J, Cunniff C, Fryns JP, Grace E, Graham JM Jr, Kousseff B, Mattina T, et al.
Am J Hum Genet 56(3):676-83. 1995
35FRA11B, CBL, DEL11QD
Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3.
Jones C, et al.
Hum Mol Genet 3 : 2123-2130. 1994
36DEL11QD
Molecular detection of a translocation (Y;11)(q11.2;q24) in a 45,X male with signs of Jacobsen syndrome.
Van Hemel JO, et al.
Hum Genet 88 : 661-667. 1992
37DEL11QD
Deletion 11q23-qter (Jacobsen syndrome).
Obregon MG, et al.
Ann Genet 35 : 208-212. 1992
38DEL11QD
Deletion 11q23.3 without familial predisposition.
Hausmann C, et al.
Hum Genet 80 : 205. 1988
39DEL11QD
Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1.
Fryns JP, Kleczkowska A, Buttiens M, Marien P, van den Berghe H.
Clin Genet 30(4):255-60. 1986
40DEL11QD
An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study.
Jacobsen P, Hauge M, Henningsen K, Hobolth N, Mikkelsen M, Philip J.
Hum Hered 23(6):568-85. No abstract available. 1973