Jacobsen Syndrome: a case.

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.

Öz

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.

Anahtar Kelimeler

• Trigonosefali
• 11q parsiyal delesyonu
• Jacobsen sendromu

Kaynakça

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