Jacobsen Syndrome: a case.

Year 2015, , 28 - 31, 26.02.2015

Ali Karaman , Hatip Aydın

https://doi.org/10.16948/zktb.34902

Abstract

Introduction: Jacobsen syndrome is a contiguous gene deletion syndrome caused by partial deletion of the long arm of chromosome 11. The characteristic features includes pre and postnatal growth retardation, psychomotor retardation, trigonocephaly, strabismus, epicanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, hammer toes, and isoimmune thrombocytopenia.

Case and Method: The present case was referred at the age of 18 months because of delayed psychomotor development, postnatal growth retardation and multiple congenital anomalies. Clinical examination showed trigonocephaly, strabismus, epicanthus, upslanting palpebral fissures, broad nasal bridge, short nose with anteverted nostrils, long philtrum, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, hammer toes. His karyotype was 46,XY, del(11)(q23.3-->qter). Array CGH on peripheral blood lymphocyte DNA. Terminal deletion ranged from 120.725.596 to 135.006.516 bp in size (14.280.921 bp) and covered chromosome regions 11q23.3-qter.

Conclusion: As Jacobsen Syndrome presents with distinc clinical features, caryotype analysis and array CGH is valuable in suspected and uncertain cases.

Keywords

Trigonocephaly, 11q partial deletion, Jacobsen syndrome

Jacobsen Sendromu: bir olgu.

Abstract

Giriş: Jacobsen sendromu 11. kromozomun q kolunun parsiyal delesyonu ile ardışık gen kaybı ile karakterize bir sendromudur. Karakteristik özellikleri pre ve postnatal büyüme geriliği, psikomotor retardasyon, trigonosefali, antevert burun delikleri, geniş burun köprüsü, uzun filtrum, sazan-şekilli üst dudak, retrognati, düşük dismorfik kulaklar, kamptodaktili, çekiç ayak parmakları, şaşılık, epikantus ve izoimmun trombositopenidir.

Olgu ve Yöntem: Olgu psikomotor gerilik, postnatal gelişim geriliği ve multiple konjenital anomalileri nedeniyle 18 aylık iken sevk edilmişti. Klinik muayene trigonosefali, strabismus, epikantus, yukarı doğru palpebral fissürler, basık burun kökü, antevert burun delikli kısa burun, sazan-şekilli üst dudak, retrognati, düşük ve arka yerleşimli kulaklar, bilateral kamptodaktili, çekiç ayak parmakları gösterdi. Karyotipi 46,XY, del(11)(q23.3 --> qter) idi. 11 q subtelomerik FISH ile konfirme edildi. Periferik kan lenfosit DNA’sında Array CGH yapıldı. Terminal delesyon, 11q23.3-11qter bölgesinde yer alan 120.725.596 ile 135.006.516 bp arasında 14.280.921 bp büyüklüğünde idi.

Sonuç: Jacobsen sendromu farklı klinik bulgular göstermesi nedeniyle, şüpheli olguların tanısı için karyotip analizi ve Array CGH büyük önem taşımaktadır.

Keywords

Trigonosefali, 11q parsiyal delesyonu, Jacobsen sendromu

References

• 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 (6): 568–585.
• Takahashi I, Takahashi T, Sawada K, Shimojima K, Yamamoto T. Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years. Am J Med Genet A. 2012 ;158A(1):220-223.
• Mattina T, Perrotta CS, Grossfeld P. Jacobsen syndrome. Orphanet J Rare Dis. 2009;4:9.
• 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 (3): 676–683.
• Michaelis RC, Velagaleti GV, Jones C et al. Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B. Am J Med Genet 1998: 76 (3): 222–228.
• Jones C, Mullenbach R, Grossfeld P et al. 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.
• Tyson C, Quia Y, Harvard C et al. 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.
• Raslova H, Komura E, Le Couedic JP, Larbret F, Debili N, Feunteun J, Danos O, Albagli O, Vainchenker W, Favier R. FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. J. Clin. Invest. 2004; 114: 77-84.
• Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C. Am J Med Genet A 2004; 29: 51-61.
• Fernández González N, Prieto Espuñes S, Ibáñez Fernández A, Fernández Colomer B, López Sastre J, Fernández Toral J. Deletion 11q23 --> qter (Jacobsen Syndrome) associated with duodenal atresia and annular pancreas. An Esp Pediatr. 2002;57(3):249-252.
• Johnson J, Haag M, Beischel L, McCann C, Phillips S, Tunby M, Hansen J, Schwanke C, Reynolds J. Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome. Clin Genet. 2013;85(4):376-380.