Cytogenetic diagnostic: features of postnatal karyotyping
DOI:
https://doi.org/10.18370/2309-4117.2015.24.101-106Keywords:
chromosomal diseases, cytogenetic diagnostics, postnatal karyotypingAbstract
Chromosomal diseases are serious diseases that are usually accompanied by a disability of patients. Medical and genetic counseling involves a complex of preventive measures to prophylaxis the birth of such patients in families. Cytogenetic diagnosis is one of the diagnostic type of these diseases – this is a complex of traditional karyotyping techniques and different FISH technics. The indications for this test are multiple congenital malformations/microanomalies ,various neuro-psychiatric disorders, sexual development disorders, a variety of disembriogenetic stigma, prenatal and postnatal growth and development retardation, autism, delayed speech development, learning difficulties.
References
- Baranov, V.S., Kuznetsova, T.V. Cytogenetics of human embryonic development. St. Petersburg (2007): 639 p.
- Tavokina, L.V., Baronova, E.V., Sopko, N.I. “The most common chromosomal abnormality in karyotypes of patients with reproductive disorders.” Cytology and Genetics, 4 (Vol. 4) (2007): 48–55.
- Vorsanova, S.G., Yurov, Y.B., Chernyshov, V.N. Medical cytogenetics. Moscow. Medpractice–M (2006): 300 p.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2015 Л. В. Тавокина
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.