Jacobsen Sendromu: Bir Olgu
Giriş: Jacobsen sendromu 11. kromozomun q ko- lunun parsiyal delesyonu ile ardışık gen kaybı ile karakterize bir sendromudur. Karakteristik özellik- leri pre ve postnatal büyüme geriliği, psikomotor retardasyon, trigonosefali, antevert burun delikleri, geniş burun köprüsü, uzun filtrum, sazan-şekilli üst dudak, retrognati, düşük dismorfik kulaklar, kamp- todaktili, çekiç ayak parmakları, şaşılık, epikantus ve izoimmun trombositopenidir. Olgu ve Yöntem: Olgu psikomotor gerilik, postna- tal gelişim geriliği ve multiple konjenital anoma- lileri nedeniyle 18 aylık iken sevk edilmişti. Klinik muayene trigonosefali, strabismus, epikantus, yu- karı doğru palpebral fissürler, basık burun kökü, antevert burun delikli kısa burun, sazan-şekilli üst dudak, retrognati, düşük ve arka yerleşimli kulak- lar, bilateral kamptodaktili, çekiç ayak parmakları gösterdi. Karyotipi 46,XY, del(11)(q23.3 --> qter) idi. 11 q subtelomerik FISH ile konfirme edildi. Pe- riferik kan lenfosit DNAsında Array CGH yapıl- dı. 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 taşı- maktadır.
Jacobsen Syndrome: A Cases
Introduction: Jacobsen syndrome is a contiguous gene deletion syndrome caused by partial deletion of the long arm of chromosome 11. The characteris- tic features includes pre and postnatal growth retar- dation, psychomotor retardation, trigonocephaly, strabismus, epicanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilate- ral camptodactyly, hammer toes, and isoimmune thrombocytopenia. Case and Method: The present case was referred at the age of 18 months because of delayed psychomo- tor development, postnatal growth retardation and multiple congenital anomalies. Clinical examinati- on showed trigonocephaly, strabismus, epicanthus, upslanting palpebral fissures, broad nasal bridge, short nose with anteverted nostrils, long philtrum, carp-shaped upper lip, retrognathia, low-set dys- morphic ears, bilateral camptodactyly, hammer toes. His karyotype was 46,XY, del(11)(q23.3-->q- ter). 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 cove- red 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.
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