search for


Case Report
A Case of Jacobsen Syndrome Presenting with a Huge Cephalhematoma and Thrombocytopenia after Birth
Clin Pediatr Hematol Oncol 2018;25:56-60.
Published online April 30, 2018
© 2018 Korean Society of Pediatric Hematology-Oncology and Korean Society for Pediatric Neuro-Oncology

Juhee Shin, M.D.1, Gaeun Kim, M.D.1, Rosie Lee, M.D.1, Nani Jung, M.D.1, Ye Jee Shim, M.D.1 and Jung-Sook Ha, M.D.2

Departments of 1Pediatrics, 2Laboratory Medicine, Keimyung University School of Medicine and Dongsan Medical Center, Daegu, Korea
Correspondence to: Ye Jee Shim
Department of Pediatrics, Keimyung University School of Medicine and Dongsan Medical Center, 56 Dalseong-ro, Jung-gu, Daegu 41931, Korea
Tel: +82-53-250-7024 Fax: +82-53-250-7783 E-mail:
Received March 22, 2018; Revised April 3, 2018; Accepted April 9, 2018.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Jacobsen syndrome (JS) is a contiguous gene syndrome resulting from a deletion of chromosome 11q, with various clinical manifestations. A post-term small for gestational age infant was born by normal vaginal delivery without trauma or vacuum extraction. On day 5, right parietotemporal scalp swelling developed, with petechiae on the right cheek and thrombocytopenia (platelets: 63,000/μL). A prominent forehead, wide-set eyes, short and upturned nose were noted. Karyotyping and microarray analysis demonstrated del(11)(q24q25), consistent with Jacobsen syndrome. Brain magnetic resonance imaging (MRI) revealed a huge cephalhematoma. The patient is scheduled to receive periodic evaluations for thrombocytopenia and heart, kidney, abdominal malformations, ophthalmologic and auditory problems. There are lots of newborns with cephalhematoma or petechiae after birth. Not all newborns with these symptoms need evaluations, but if they have these symptoms with suspect features or appearances, we need to go through further evaluations.
Keywords: Jacobsen syndrome, 11q deletion, Paris-Trousseau syndrome, Thrombocyto-penia, Distal 11q deletion syndrome
  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: 568-85.
    Pubmed CrossRef
  2. Tassano E, Janis S, Canepa A, et al. Interstitial 11q24 deletion: a new case and review of the literature. J Appl Genet 2016;57:357-62.
    Pubmed CrossRef
  3. Pivnick EK, Velagaleti GV, Wilroy RS, et al. 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. J Med Genet 1996;33:772-8.
    Pubmed KoreaMed CrossRef
  4. Grossfeld PD, Mattina T, Lai Z, et al. The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet A 2004;129A:51-61.
    Pubmed CrossRef
  5. Mattina T, Perrotta CS, Grossfeld P. Jacobsen syndrome. Orphanet J Rare Dis 2009;4:9.
    Pubmed KoreaMed CrossRef
  6. Favier R, Jondeau K, Boutard P, et al. Paris-Trousseau syndrome: clinical, hematological, molecular data of ten new cases. Thromb Haemost 2003;90:893-7.
  7. Noh JH, Park IS, Lee HK, Kim YC. A case of Jacobsen syndrome. J Korean Soc Neonatol 2002;9:211-4.
  8. Yoon JH, Kim SR, Lee WI, et al. A case of prenatally diagnosed Jacobsen syndrome. Korean J Obstet Gynecol 2005;48:1358-61.
  9. Nam HK, Choi R, Kim CH, Lee SJ. A case of 11q deletion syndrome. J Korean Pediatr Soc 1991;34:1587-92.
  10. Penny LA, Dell'Aquila M, Jones MC, et al. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet 1995;56:676-83.
    Pubmed KoreaMed
  11. Malia LA, Wolkoff LI, Mnayer L, Tucker JW, Parikh NS. A case report: jacobsen syndrome complicated by Paris-Trousseau syndrome and shone's complex. J Pediatr Hematol Oncol 2015;37:e429-32.
    Pubmed CrossRef
  12. Breton-Gorius J, Favier R, Guichard J, et al. A new congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23. Blood 1995;85:1805-14.
  13. Ichimiya Y, Wada Y, Kunishima S, et al. 11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report. J Med Case Rep 2018;12:3.
    Pubmed KoreaMed CrossRef
  14. Kim JY, Lee KH, Lee SC, Lee JY. Monosomy 22 mosaicism associated thrombocytopenia presenting as Behcet's disease. Clin Pediatr Hematol Oncol 2012;19:40-3.
  15. Krishnamurti L, Neglia JP, Nagarajan R, et al. Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome. Am J Hematol 2001;66:295-9.
    Pubmed CrossRef

April 2019, 26 (1)
Full Text PDF
Send to a friend

Cited By Articles
  • CrossRef (0)

Author ORCID Information
  • Ye Jee Shim