DIAGNOSTICS OF CHROMOSOMAL ABBERATIONS BY arrayCGH

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Abstract

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.

About the authors

Olga Viktorovna Malysheva

City Diagnostic center of medical genetics

Email: omal99@mail.ru
geneticist, PhD

Aleksandr Nikolayevich Baranov

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

Email: alexbar@mail.ru
senior researcher, PhD

Anna Andreyevna Pendina

City Diagnostic center of medical genetics

Email: pendina@mail.ru
cytogenetics, PhD

Yelena Sergeyevna Shabanova

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

Email: le_shaja@mail.ru
regular doctor geneticist

Vladislav Sergeyevich Baranov

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

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

References

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  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.
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Copyright (c) 2013 Malysheva O.V., Baranov A.N., Pendina A.A., Shabanova Y.S., Baranov V.S.

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