Mikrosefali ile İlişkili Genetik Faktörler, Genetic Disorders Associated with Microcephaly

Esra Kılıç

doi:10.12956/tchd.589256

Mikrosefali ile İlişkili Genetik Faktörler, Genetic Disorders Associated with Microcephaly

Abstract

ÖZET

Mikrosefali bir hastalık değildir, bir klinik bulgudur ve öğrenme güçlüğü ile sıklıkla ilişkili olan azalmış intrakranyal beyin hacmini tahmin etmemizi sağlar. İntrauterin nöronal gelişimdeki anormal süreç primer mikrosefaliye sebep olur. Sekonder mikrosefali doğumdan sonra gelişir ve sıklıkla beyaz cevher hastalıkları ile ilişkilidir. Mikrosefalinin altında yatan etyolojik sebepler kompleks veya multifaktöriyel olabilir. Bu sebepler, anormal mitotik iplikcik yapısı, anormal sentrozomal protein yapısı, bozuk siliyer fonksiyon, bozuk DNA tamir mekanizması ve replikasyon bozukluklarını içerir. Biz burada primer konjenital ve sekonder gelişimsel mikrosefalinin genetik faktörlerini gözden geçireceğiz.

ABSTRACT

Microcephaly, is not a disease, is a clinical finding and a simple assessment of decreased intracranial brain volume which is frequently associated with intellectual disability. Abnormal developmental processes which affects in utero neuron development results primary microcephaly at birth. The secondary microcephaly develops after birth and mostly associated with white matter diseases. The underlying etiologies of microcephaly are complex and multifactorial. These include abnormal mitotic spindle structure, centrosomal protein abnormalities, impaired cilia function, damaged DNA repair mechanism and DNA replication. Here we overview the genetic factors of primer congenital and secondary developmental microcephaly.

Keywords

mikrosefali,zihinsel yetersizlik

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Details

Primary Language

Turkish

Subjects

Internal Diseases

Journal Section

Review

Authors

Esra Kılıç ^*
0000-0003-0522-1809
Türkiye

Publication Date

January 27, 2020

Submission Date

July 9, 2019

Acceptance Date

September 18, 2019

Published in Issue

Year 2020 Volume: 14 Number: 1

DOI

https://doi.org/10.12956/tchd.589256

IZ

https://izlik.org/JA84WG42BE

Cite

RIS / Bibtex

APA

Kılıç, E. (2020). Mikrosefali ile İlişkili Genetik Faktörler, Genetic Disorders Associated with Microcephaly. Türkiye Çocuk Hastalıkları Dergisi, 14(1), 95-99. https://doi.org/10.12956/tchd.589256

AMA

1.Kılıç E. Mikrosefali ile İlişkili Genetik Faktörler, Genetic Disorders Associated with Microcephaly. Turkish J Pediatr Dis. 2020;14(1):95-99. doi:10.12956/tchd.589256

Chicago

Kılıç, Esra. 2020. “Mikrosefali Ile İlişkili Genetik Faktörler, Genetic Disorders Associated With Microcephaly”. Türkiye Çocuk Hastalıkları Dergisi 14 (1): 95-99. https://doi.org/10.12956/tchd.589256.

EndNote

Kılıç E (January 1, 2020) Mikrosefali ile İlişkili Genetik Faktörler, Genetic Disorders Associated with Microcephaly. Türkiye Çocuk Hastalıkları Dergisi 14 1 95–99.

IEEE

[1]E. Kılıç, “Mikrosefali ile İlişkili Genetik Faktörler, Genetic Disorders Associated with Microcephaly”, Turkish J Pediatr Dis, vol. 14, no. 1, pp. 95–99, Jan. 2020, doi: 10.12956/tchd.589256.

ISNAD

Kılıç, Esra. “Mikrosefali Ile İlişkili Genetik Faktörler, Genetic Disorders Associated With Microcephaly”. Türkiye Çocuk Hastalıkları Dergisi 14/1 (January 1, 2020): 95-99. https://doi.org/10.12956/tchd.589256.

JAMA

1.Kılıç E. Mikrosefali ile İlişkili Genetik Faktörler, Genetic Disorders Associated with Microcephaly. Turkish J Pediatr Dis. 2020;14:95–99.

MLA

Kılıç, Esra. “Mikrosefali Ile İlişkili Genetik Faktörler, Genetic Disorders Associated With Microcephaly”. Türkiye Çocuk Hastalıkları Dergisi, vol. 14, no. 1, Jan. 2020, pp. 95-99, doi:10.12956/tchd.589256.

Vancouver

1.Esra Kılıç. Mikrosefali ile İlişkili Genetik Faktörler, Genetic Disorders Associated with Microcephaly. Turkish J Pediatr Dis. 2020 Jan. 1;14(1):95-9. doi:10.12956/tchd.589256