Örnek olgularla array uygulamalarında karşılaşılan sorunlar ve çözüm önerileri


Karaman B.

V. Uluslararası Katılımlı Erciyes Tıp Genetik günleri, Kayseri, Turkey, 20 - 22 February 2020, pp.22

  • Publication Type: Conference Paper / Summary Text
  • City: Kayseri
  • Country: Turkey
  • Page Numbers: pp.22
  • Istanbul University Affiliated: Yes

Abstract

Cytogenetics, molecular cytogenetics and a-CGH / microarray techniques are complementary tools, operated within the sophisticated combination of equations in connection to clinical indications, time-frames, availability of resources, experienced specialist, and the accessibility of

the family members if required to be included in the investigation for meaningful results; should not be considered within the irrational hopes.  

In the last 40 years, the diagnostic sensitivity of chromosomal anomalies has increased from megabases (Mb) to kilobases (kb), with the use of new techniques applied in parallel to novel technological developments. In particular, the development and clinical application of a-CGH in recent years has revolutionized the diagnostic management of patients and greatly facilitated the identification of the molecular basis of many genetic diseases. Due to these developments, molecular karyotyping began to replace the classical cytogenetic techniques in patients with mental retardation and / or congenital anomalies and in prenatal cases with abnormal ultrasound findings.

Besides all these diagnostic advantages, there are some disadvantages such as erroneous or incidental probe hybridization or unexplored results of detections. In this context, it is necessary to develop appropriate algorithms for our country and to know the limitations of the technique thoroughly.

In this presentation, discussion environment will be conceived and experiences will be shared along with the case illustrations.