Genetic Approach to the Case with Amniotic Band Sequence
1Department of Medical Genetics Faculty of Medicine, Erciyes University, Kayseri- Turkey
2Department of Genetics, Erciyes University Medical Faculty, Kayseri, Turkey
J Clin Pract Res 2010; 32(1): 61-64
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Abstract

Amniotic Band Sequence which can also be called as Early Amniotic Band Rupture Sequence; describes a variable group of anomalies by the cause of early rupture of the amnion membrane. A fortnightly dismorphic infant applied to our clinic with the symptoms of right complete lip cleft, complete palate cleft, hands with structural defects and left foot amputation. As a result of her examination, we thought that the reason of her structural defects was Early Amniotic Band Rupture Sequence and gave genetic counselling according to the literature to her family.


Amniyotik Bant Sekanslı Olguya Genetik Yaklaşım
1Department of Medical Genetics Faculty of Medicine, Erciyes University, Kayseri- Turkey
2Department of Genetics, Erciyes University Medical Faculty, Kayseri, Turkey
Journal of Clinical Practice and Research 2010; 1(32): 61-64

Erken Amniyon Rüptür Sekansı olarak da isimlendirilen amniyotik bant sekansı (ABS), amniyon zarının erken rüptürü ile oluşan konstriktif bandlar sonucu meydana gelen gelişimsel bozukluklar bütününü tanımlamaktadır. Sağ komplet dudak yarığı, komplet damak yarığı, her iki el parmaklarında gelişim kusuru ve sol ayak bileğinden konjenital amputasyonu olan 15 günlük kız olgu dismorfik özellikleri nedeniyle polikliniğimize başvurdu. Yapılan değerlendirmeler neticesinde; deformitelerin erken amniyotik bant rüptürü sonucunda gerçekleştiği düşünüldü ve aileye literatür bilgileri ışığında genetik danışmanlık verildi.