Akademik Veri Yönetim Sistemi
V. Uluslararası Katılımlı Erciyes Tıp Genetik günleri, Kayseri, Türkiye, 20 - 22 Şubat 2020, ss.22
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.