A case of 8p and 18p genetic imbalance in a female patient without pronounced physical and mental abnormalities
Abstract
We report on a rare case of genetic imbalance - 8p and 18p terminal deletions combined with microduplications in karyotype 45,ХХ,der(8)t(8;18)(p23;p11.3),-18dn of a 28-year old female patient with no pronounced physical and mental abnormalities.
About the Authors
A. A. Pendina
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology; St. Petersburg State University
Russian Federation
Russian Federation
O. A. Efimova
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology; St. Petersburg State University
Russian Federation
Russian Federation
O. G. Chiryaeva
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
O. V. Malysheva
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
V. S. Dudkina
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
L. I. Petrova
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
P. A. Pavlova
St. Petersburg State University
Russian Federation
Russian Federation
A. V. Tikhonov
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology; St. Petersburg State University
Russian Federation
Russian Federation
M. I. Krapivin
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology; St. Petersburg State University
Russian Federation
Russian Federation
A. S. Koltsova
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology; St. Petersburg State University
Russian Federation
Russian Federation
S. E. Parfenyev
St. Petersburg State University
Russian Federation
Russian Federation
E. A. Serebryakova
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology; St. Petersburg State University
Russian Federation
Russian Federation
E. S. Shabanova
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology; North-Western State Medical University named after I.I.Mechnikov
Russian Federation
Russian Federation
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Review
For citations:
Pendina A.A., Efimova O.A., Chiryaeva O.G., Malysheva O.V., Dudkina V.S., Petrova L.I., Pavlova P.A., Tikhonov A.V., Krapivin M.I., Koltsova A.S., Parfenyev S.E., Serebryakova E.A., Shabanova E.S. A case of 8p and 18p genetic imbalance in a female patient without pronounced physical and mental abnormalities. Medical Genetics. 2017;16(5):34-38. (In Russ.)
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