Sendromik Olmayan Konjenital Yarık Damak-Dudak Bulunan Hastalarda Kopya Sayısı Varyasyonlarının Belirlenmesi

Emine İkbal ATLI; Engin ATLI; Sinem YALÇINTEPE; Selma DEMİR; Yasemin ÖZTEN; Hakan GURKAN

Makale detayları

Sendromik Olmayan Konjenital Yarık Damak-Dudak Bulunan Hastalarda Kopya Sayısı Varyasyonlarının Belirlenmesi

Yazarlar:

Emine İkbal ATLI | Engin ATLI | Sinem YALÇINTEPE | Selma DEMİR | Yasemin ÖZTEN | Hakan GURKAN

Yayıncı:

Eskişehir Osmangazi University

Ana Başlıklar:

Sağlık teşvikleri

Dergi:

Osmangazi Journal of Medicine 2021 Vol.43 Issue 5, pp.462-470

Belge Tipi:

Makale

Yayın Tarihi:

9/2021

Belge Dili:

Türkçe

Document ID (Org No.):

2000554815

Sıklık:

İki Aylık

eISSN:

2587-1579

pISSN:

1305-4953

Özet:

 


Cleft lip and palate is the most common craniofacial anomaly. There is no concomitant anomaly in 70% of the cases and it is called non-syndromic cleft lip and palate. Molecular and quantitative developments in the science of genetics suggest that genetic mechanisms may play a role in both syndromic and non-syndromic types of this pathology. Non-syndromic cleft lip / palate is a common developmental abnormality that occurs during the embryonic period. This study aims to define genetic abnormalities due to copy number changes in cleft lip / palate pathogenesis. Our study, using the CytoScan 180K sequence targeted to detect genome-wide copy number variations, was performed with a sample of 17 patients with cleft lip and palate aged 1-15 years. Seven significant copy number changes were detected. These changes consisted of duplications (9p23-p24, 18q12.1, Xp22.12, Xp22.31, Yq11.21 / 16q24.1) and deletions (5q21.3 and 6p22.3-23) in patients with cleft lip and palate. It has also been shown in our study that genetic factors play a role in non-syndromic cases. Larger scale genome screening studies continue in different populations as well. The important point to be kept in mind in prospective patient management is this; If there is a cleft lip and palate in the family and relatives, the risk of cleft lip and palate increases in the next child. Even in sporadic cases where parents are not affected, it should be kept in mind that the risk of oral cleft in the next child is increased and the family should be informed about the next pregnancy.

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Makale detayları

Sendromik Olmayan Konjenital Yarık Damak-Dudak Bulunan Hastalarda Kopya Sayısı Varyasyonlarının Belirlenmesi

Yazarlar: Emine İkbal ATLI | Engin ATLI | Sinem YALÇINTEPE | Selma DEMİR | Yasemin ÖZTEN | Hakan GURKAN

Yayıncı: Eskişehir Osmangazi University

Ana Başlıklar: Sağlık teşvikleri

Dergi: Osmangazi Journal of Medicine 2021 Vol.43 Issue 5, pp.462-470

Belge Tipi: Makale

Yayın Tarihi: 9/2021

Belge Dili: Türkçe

Document ID (Org No.): 2000554815

Sıklık: İki Aylık

eISSN: 2587-1579

pISSN: 1305-4953

Sayı

Yazarlar:

Emine İkbal ATLI | Engin ATLI | Sinem YALÇINTEPE | Selma DEMİR | Yasemin ÖZTEN | Hakan GURKAN

Yayıncı:

Eskişehir Osmangazi University

Ana Başlıklar:

Sağlık teşvikleri

Dergi:

Osmangazi Journal of Medicine 2021 Vol.43 Issue 5, pp.462-470

Belge Tipi:

Makale

Yayın Tarihi:

9/2021

Belge Dili:

Türkçe

Document ID (Org No.):

2000554815

Sıklık:

İki Aylık

eISSN:

2587-1579

pISSN:

1305-4953