Modern opportunities of medical care in a family with hereditary disease: a case report
Abstract
The paper gives an example of «dyagnostic Odyssee» of the patient with rare hereditary condition, Neu-Laxova syndrome. This case report emphasizes the role of Next Generation Sequencing in establishing the difficult diagnosis; also it demonstrates modern approaches to prenatal DNA analysis and obstetric care in pregnancy.
About the Authors
L. V. Liazina
State Consulting Health Establishment Diagnostic Centre (Medical Genetics)
Russian Federation
Russian Federation
N. N. Bodioul
State Consulting Health Establishment Diagnostic Centre (Medical Genetics)
Russian Federation
Russian Federation
N. V. Vochkmianina
State Consulting Health Establishment Diagnostic Centre (Medical Genetics)
Russian Federation
Russian Federation
A. G. Efimova
Children’s City Clinical Hospital No.1
Russian Federation
Russian Federation
E. A. Serebryakova
The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O.Ott; City Hospital No.40
Russian Federation
Russian Federation
T. E. Ivashchenko
The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O.Ott
Russian Federation
Russian Federation
O. S. Glotov
The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O.Ott; City Hospital No.40; St.Petersburg State University
Russian Federation
Russian Federation
A. S. Glotov
The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O.Ott; City Hospital No.40; St.Petersburg State University
Russian Federation
Russian Federation
O. V. Romanova
City Hospital No.40
Russian Federation
Russian Federation
M. L. Kuranova
Institute of Cytology, Russian Academy of Sciences
Russian Federation
Russian Federation
A. A. Vasilishina
Institute of Cytology, Russian Academy of Sciences
Russian Federation
Russian Federation
E. N. Suspitsin
St-Petersburg Pediatric Medical University
Russian Federation
Russian Federation
A. V. Mikhailov
Maternity Clinic No.17
Russian Federation
Russian Federation
A. M. Sarana
City Hospital No.40; St.Petersburg State University
Russian Federation
Russian Federation
S. G. Shcherbak
City Hospital No.40; St.Petersburg State University
Russian Federation
Russian Federation
V. S. Baranov
The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O.Ott; St.Petersburg State University
Russian Federation
Russian Federation
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Review
For citations:
Liazina L.V., Bodioul N.N., Vochkmianina N.V., Efimova A.G., Serebryakova E.A., Ivashchenko T.E., Glotov O.S., Glotov A.S., Romanova O.V., Kuranova M.L., Vasilishina A.A., Suspitsin E.N., Mikhailov A.V., Sarana A.M., Shcherbak S.G., Baranov V.S. Modern opportunities of medical care in a family with hereditary disease: a case report. Medical Genetics. 2017;16(10):51-54. (In Russ.)
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