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2014 | 4 | 4 | 28-35

Article title

Jacobsen Syndrome - Prenatal and Postnatal Phenotypic Changes - Case Report and Review


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11 deletion syndrome, Jacobsen syndrome (JBS), is a rare genetic abnormality associated with a wide variety of phenotypes. There are only a few case reports of JBS diagnosed prenatally, however majority resulting in termination of pregnancy. We present for the first time a prenatal diagnosis of JBS with congenital heart defect common arterial trunk type I (CAT) and the changing phenotype during fetal and postnatal life.









Physical description


1 - 12 - 2014
26 - 11 - 2014
28 - 10 - 2014
30 - 12 - 2015


  • Student of Medical University of Lodz
  • Department of Fetal Cardiology Research Hospital Polish Mother’s Memorial Hospital
  • Department of Diagnoses and Prevention of Fetal Malformations Medical University of Łódź


  • 1. Jacobsen P, Hauge M, Henningsen K, Hobolth N, Mikkelsen M, Philip J.: An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. Hum Hered 1973, 23: 568-585[Crossref]
  • 2. Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C.: The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet 2004; 129A: 51-61
  • 3. Pivnick EK, Velagaleti GV, Wilroy RS, Smith ME, Rose ME, Tipton RE, Tharapel AT.: Jacobsen Syndrome: Report of a patient with severe eye anomalies, growth hormone seficiency and hypotiroidism associated with deletion 11 (q23q25) and review of 52 cases. J Med Genet 1996, 33: 772-778[Crossref]
  • 4. McClelland SM, Smith APM, Smith NC, Gray ES, Diack JSW, Dean JCS.: Nuchal thickening in Jacobsen syndrome. Ultrasound Obstet Gynecol 1998, 12: 280-282[Crossref]
  • 5. Porter S, Wilson E, Tyler X, Warren R, Ffrench-Constant C, Pearson J.: A case of discordant related abnormal karyotypes from chorionic villi and amniocytes. Prenat Diagn 1999, 19: 887-890[Crossref]
  • 6. Chao M-C, Yang S-Y, Chang Y, Huang Y-W, Liu T-C, Lee J-P, and Chen B-H: Prenatal diagnosis of der (11) t (11;18) (q24;q21.3) due to paternal balanced translocation and both parents are carriers of -thalassemia-1- a case report. Kaohsiung J Med Sci 2001, 17: 430-436
  • 7. Chen CP, Chern SR, Tzen CY, Lee MS, Pan CW, Chang TY, Wang W.: Prenatal diagnosis of de novo distal 11q deletion associated with sonographic findings of unilateral duplex renal system, pyelectasis and orofacial clefts. Prenat Diagn 2001, 21, 317-320[Crossref]
  • 8. Baena N, De Vigan C, Cariati E, Clementi M, Stoll C, Caballin MR, Guitart M.: EUROSCAN Working Group: Prenatal detection of rare chromosomal autosomal abnormalities in Europe. Am J Med Genet 2003, 118A: 319-327
  • 9. Chen CP, Chern SR, Chang TY, Tzen CY, Lee CC, Chen WL, Chen LF, Wang W.: Prenatal diagnosis of the distal 11q deletion and review of the literature. Prenat Diagn 2004, 24 (2): 130-6[Crossref]
  • 10. Boehm D, Laccone F, Burfeind P, Herold S, Schubert C, Zoll B, Manner J, Pauer HU, Bartels I.: Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q. Prenat Diagn 2006, 26 (3): 286-90[Crossref]
  • 11. Sanz-Cortes M, Raga F, Bonilla- Musoles F.: Prenatal diagnosis of a 11q deletion syndrome associated with unilateral hydronephrosis diagnosed by 3D ultrasound examination. Prenat Diagn 2007, 27 (12): 1158-60[WoS][Crossref]
  • 12. Valduga M1, Cannard VL, Philippe C, Romana S, Miton A, Droulle P, Foliguet B, Lecompte T, Jonveaux P.: Prenatal diagnosis of mosaicism for 11q terminal deletion. Eur J Med Genet 2007, 50 (6): 475-81[WoS][Crossref]
  • 13. Kato T, Mizuno S, Kurosawa K, Suzuki S, Niimi T, Natsume N.: Jacobsen syndrome associated with cleft lip: A patient report and review. J Oral Maxillofac Surg Med Pathol 2014
  • 14. Mattina T, Perrotta CS, Grossfeld P.: Jacobsen syndrome. Orphanet J Rare Dis 2009, 7: 4-9[WoS]
  • 15. Penny LA, Dell’Aquila M, Jones MC, Bergoffen J, Cunnif C, Fryns JP, Grace E, Graham JM Jr, Kouseff B, Mattina T, Syme J, Voullaire L, Zelante L, Zenger- Hain J, Jones OW, Evans GA.: Clinical and molecular characterization of patients with distal 11q deletion. Am J Hum Genet 1995, 56: 676-683
  • 16. Lin JH, Hou JW, Teng RJ, Tien HF, Lin KH.: Jacobsen distal 11q deletion syndrome with myelodysplatic change of haemopoetic cells. Am J Med Genet 1998, 75: 341-344[Crossref]
  • 17. Leegte B, Kerstjens-Frederikse WS, Deelstra K, Begeer JH, van Essen AJ.: 11q- syndrome: three cases and a review of the literature. Genet Couns 1999, 10 (3): 305-13
  • 18. Wardinsky TD, Weinberger E, Pagon RA, Clarren SK, Thuline HC.: Partial deletion of the long arm of chromosome 11 [del(11)(q23.3----qter)] with abnormal white matter. Am J Med Genet 1990, 35 (1): 60-3[Crossref]
  • 19. Ono J, Harada K, Hasegawa T, Sakurai K, Kodaka R, Tanabe Y, Tanaka J, Igarashi T, Nagai T, Okada S.: Central nervous system abnormalities in chromosome deletion at 11q23. Clin Genet 1994, 45(6): 325-9
  • 20. So J, Stockley T, Stavropoulos DJ.: Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24deletion in the Jacobsen syndrome region. Am J Med Genet A 2014, 164 A (2): 511-5[WoS]
  • 21. Neavel CB, Soukup S.: Deletion of (11) (q24.2) in a mother and daughter with similar phenotypes. Am J Med Genet 1994, 53: 321-324 [Crossref]
  • 22. Bohm D, Hoffmann K, Laccone F, Wilken B, Dechent P, Frahm J, Bartels I, Bohlander SK.: Association of Jacobsen Syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion. Am J Med Genet 2006, 140 (4): 378-382[Crossref]
  • 23. 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.: Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH. Mol Cytogenet 2008, 1(1): 23[WoS]
  • 24. Dunn JR, Reed JE, du Plessis DG, Shaw EJ, Reeves P, Gee AL, Warnke P, Walker C.: Expression of ADAMTS-8, a secreted protease with antiangiogenic properties, is downregulated in brain tumours. Br J Cancer 2006, 94: 1186-1193[Crossref]
  • 25. Edelmann L, Spiteri E, McCain N, Goldberg R, Pandita RK, Duong S, Fox J, Blumenthal D, Lalani SR, Shaffer LG, Morrow BE.: A common breakpoint on 11q23 in carriers of the constitutional t(11,22) translocation. Am J Hum Genet 1999, 65:1608-1616
  • 26. Palka G, Verrotti A, Peca S, Mosca L, Lombardo G, Verrotti M, Morgese G.: Ring chromosome 11. A case report and review of the literature. Ann Genet 1986, 29(1): 55-58
  • 27. Jones C, Mullenbach R, Grossfeld P, Auer R, Favier R, Chien K, James M, Tunnacliffe A, Cotter F.: Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage.Hum Mol Genet 2000 9(8): 1201-1208[Crossref]
  • 28. Krishnamurti L, Neglia JP, Nagarajan R, Berry SA, Lohr J, Hirsch B, White JG.: Paris-Trousseau syndrome platelets in a child with Jacobsen’s syndrome. Am J Med Haematol 2001, 66: 295-299[Crossref]
  • 29. Gangarossa S, Schiliro G, Mattina T, Scardilli S, Mollica F, Cavallari V.: Dysmegakaryopoietic thrombocytopenia in patients with distal chromosome 11q deletion. Blood 1996, 87 (11): 4915-4916
  • 30. Favier R, Jondeau K, Boutard P, Grossfeld P, Reinert P, Jones C, Bertoni F, Cramer EM.: Paris-Trousseau syndrome: clinical, haematological, molecular data of ten new cases. Thromb Haemost 2003, 90: 893-897
  • 31. White JG: Platelet storage pool deficiency in Jacobsen syndrome.: Platelets 2007, 18(7): 522-527[Crossref][WoS]
  • 32. Bernaciak J, Szczauba K, Derwinska K, Wioeniowiecka-Kowalnik B, Bocian E, Sasiadek MM, Makowska I, Stankiewicz P, Smigiel R.: 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). Am J Med Genet A 2008 1, 146 A (19): 2449-54
  • 33. Lee WB, O’Halloran HS, Grossfeld PD, Scher C, Jockin YM, Jones C.: Ocular findings in Jacobsen syndrome. J AAPOS 2004, 8(2):141-5[Crossref]
  • 34. Haghi M, Dewan A, Jones KL, Reitz R, Jones C, Grossfeld P.: Endocrine abnormalities in patients with Jacobsen (11q-) syndrome. Am J Med Genet A 2004, 129 (1):62-63[Crossref][WoS]
  • 35. Fujita H, Yanagi T, Kosaki R, Torii C, Bamba M, Takahashi T, Kosaki K.: Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome. Am J Med Genet A 2010, 152A (4): 1033-5 [WoS]
  • 36. von Bubnoff D, Kreiss-Nachtsheim M, Novak N, Engels E, Engels H, Behrend C, Propping P, de la Salle H, Bieber T.: Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome. Am J Med Genet A 2004, 30, 126A (3): 293-8
  • 37. Guerin A, Stavropoulos DJ, Diab Y, Chenier S, Christensen H, Kahr WH, Babul-Hirji R, Chitayat D.: Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome. Am J Med Genet A 2012, 158 A (10): 2551-6[WoS]
  • 38. Yamamoto S, Oka S, Inoue M, Shimuta M, Manabe T, Takahashi H, Miyamoto M, Asano M, Sakagami J, Sudo K, Iwakura Y, Ono K, Kawasaki T.: Mice deficient in nervous system-specific carbohydrate epitope HNK-1 exhibit impaired synaptic plasticity and spatial learning. J Biol Chem 2002, 277: 27227-27231[Crossref]
  • 39. 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 P.: Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioural defects in the 11q terminal deletion disorder (Jacobsen syndrome). Neurogenetics 2009, 10, 89-95[WoS][Crossref]
  • 40. Hughes DC, Legan PK, Steel KP, Richardson GP.: Mapping of the alphatector in gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness. Genomics 1998, 48: 46-51[Crossref]
  • 41. Hart A, Melet F, Grossfeld P, Chien K, Jones C, Tunnacliffe A, Favier R, Bernstein A.: Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia. Immunity 2000, 13 (2): 167-177[Crossref]
  • 42. Krasner A, Wallace L, Thiagalingam A, Jones C, Lengauer C, Minahan L, Ma Y, Kalikin L, Feinberg AP, Jabs EW, Tunnacliffe A, Baylin SB, Ball DW, Nelkin BD.: Cloning and chromosomal localization of the human BARX2 homeobox protein gene. Gene 2000, 250 (1-2): 171-180
  • 43. Śmigiel R, Sąsiadek M, Zieliński A, Respondek Liberska M.: Odległe rokowanie w zespole Aperta w aspekcie rozpoznania prenatalnego - opis przypadku genetycznego. Prenat Cardio 2011, 1 (1)

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