Down Sendromu: Babacan Köyü Orta Erişkin Kadın Birey Örneği

Yıl 2018, Cilt: 10 Sayı: 19, 525 - 533, 04.12.2018

Nevin Göksal

Öz

İnsanda genetik düzensizlik sonucu,
fazladan bir kromozomun bulunmasına Down
Sendromu (DS) denir. DS,
morfolojik bozukluklara, birçok hastalığın ortaya çıkmasına neden olan ve
dolayısıyla insanın yaşam kalitesini düşüren genetik bir farklılıktır. DS'ye
ilişkin klinik bulgunun büyük bir kısmı, iskelet kalıntılarından
değerlendirilemeyen yumuşak doku özellikleridir. DS ile ilişkili fenotipler
değişkendir. DS bireylerinin kafatasında, ince kafatası kemikleri, metopik
sütur açıklığı, oksipital düzlük, brakisefallik, frontal, maxillar ve sphenoid
sinüslerin az gelişmesi ya da yokluğu, düşük orta yüz yüksekliği, düz yüz
profili, basık ve küçük burun, oklüzyal problemler ve periyodontal hastalıklar,
eksik diş, taurodontizm gibi bulgular gözlenmektedir.  Çalışma materyalimizi, Van ili, Babacan kırsalında yapılan
kazılardan elde edilen 20-30 yaşındaki yetişkin bir kadına ait kafatası
oluşturmaktadır. Araştırmamızda
bireyin kafatası ve yüz iskeletinden osteometrik ölçümler alınmış ve bilgisayarlı tomografi (BT) taramasıyla
sinüs varlığı ve gelişimi hakkında bilgi sağlanmıştır. İncelenen bireyin
kafatasının morfolojik özellikleri DS ile uyumluluk göstermektedir. Çalışmamızın
amacı, DS'li iskelet materyalleri üzerine günümüze kadar yapılan çalışmalardan
da yararlanarak, Babacan kırsalı yetişkin kadın bireyde gözlenen DS bulgularını
değerlendirmek ve literatüre katkıda bulunmaktadır.

Anahtar Kelimeler

Down Sendromu, İskelet, Erken Demir Çağı

Down Syndrome: A Middle Adult Female Individual Sample from Babacan Village

Öz

The
presence of an additional chromosome in the human as a result of genetic
disorder is called Down Syndrome (DS). DS is a
genetic difference that leads to the occurrence of many diseases and thus
decreases the quality of life. The majority of clinical manifestations
of DS are soft tissue features that cannot be assessed in skeletal remains.
Phenotypes associated with DS vary. In the skull of DS individuals, symptoms
such as thin skull bones, metopic suture, occipital flatness, brachycephalic
structure,  little or no developed
frontal, maxillar and sphenoid sinuses, low mid facial height, flat facial
profile, flattened and small nose, occlusal problems, periodontal diseases,
missing teeth, and taurodontism are observed. Our study material is the skull
of a 20-30 year old adult female obtained from the excavations in Babacan
countryside around Van province. In our study, osteometric measurements were
taken from the individual's skull and facial skeleton, and computed tomography
(CT) scans were used to provide information about sinus presence and
development. The morphological characteristics of the skull of the examined
individual show compatibility with DS. The aim of our study is to evaluate the
DS findings observed in the adult female individual in Babacan countryside and
contribute to the literature by using the previous studies on DS skeletal
materials.

Anahtar Kelimeler

Down Syndrome, Skeleton, Early Iron Age

Kaynakça

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