DIAGNOSTICS OF CHROMOSOMAL ABBERATIONS BY arrayCGH

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ACGH is a modern and highly efficient approach for full-genomic scanning of wide spectrum of chromosomal disbalance. Here, we discuss diagnostic capabilities of aCGH and give examples of diagnostic cases.

作者简介

Olga Malysheva

City Diagnostic center of medical genetics

Email: omal99@mail.ru
geneticist, PhD

Aleksandr Baranov

D. O. Ott Research Institute of Obstetrics and Gynecology, RAMS

Email: alexbar@mail.ru
senior researcher, PhD

Anna Pendina

City Diagnostic center of medical genetics

Email: pendina@mail.ru
cytogenetics, PhD

Yelena Shabanova

D. O. Ott Research Institute of Obstetrics and Gynecology, RAMS

Email: le_shaja@mail.ru
regular doctor geneticist

Vladislav Baranov

D. O. Ott Research Institute of Obstetrics and Gynecology, RAMS

Email: baranov@VB2475.spb.edu
MD, professor, Head of laboratory for Prenatal Diagnosis

参考

  1. Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals — results from four years' clinical application for over 8.700 patients / Ahn J. W. [et al.] //Molecular Cytogenetics. — 2013. — Vol. 6, N 1. — P. 16.
  2. Comparative genomic hybridization on microarray (a-CGH) in constitutional and acquired mosaicism may detect as low as 8 % abnormal cells / Valli R. [et al.] // Molecular Cytogenetics. — 2011. — Vol. 4. — P. 4–13.
  3. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies / Miller D. T. [et al.] //Am. J. Hum. Genetics. — 2010. — Vol. 86, N 5. — P.749–764.
  4. Edelmann L., Hirschhorn K. Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies // Annales New York Acad. Sci. — 2009. — Vol. 1151. — P. 157–166.
  5. Genetic analysis of human embryos by metaphase comparative genomic hybridization (mCGH) improves efficiency of IVF by increasing embryo implantation rate and reducing multiple pregnancies and spontaneous miscarriages / Sher G. [et al.] //Fertil. Steril. — 2009. — Vol. 92, N 6. — P. 1886–1894.
  6. Keren B., Le Caignec C. Oligonucleotide microarrays in constitutional genetic diagnosis // Expert Revue Mol. Diagn. — 2011 — Vol. 11, N 5. — P. 521–532.
  7. Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies / Iourov I. Y. [et al.] // Molecular Cytogenetics. — 2012. — Vol. 5, N 1. — P. 46.
  8. Shinawi M., Cheung S. W. The array CGH and its clinical applications // Drug Discovery Today. — 2008. — Vol.13(17–18). — P. 760–770.

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版权所有 © Malysheva O.V., Baranov A.N., Pendina A.A., Shabanova Y.S., Baranov V.S., 2013

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