PHELAN–MCDERMID SYNDROM (del 22q13 AND r(22)): LITERATURE REVIEW AND 2 CASE REPORTS

PHELAN–MCDERMID SYNDROM (del 22q13 AND r(22)): LITERATURE REVIEW AND 2 CASE REPORTS

Phelan–McDermid syndrome (PMS) is a microdeletion syndrome associated with the loss of terminal segments in chromosome 22, sometimes with development of the ring chromosome 22. Clinical manifestations of PMS include epilepsy and mental disorders (autism, mental deficiency, lack of expressive speech,...

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Bibliographic Details
Main Authors: M. Yu. Bobylova, M. A. Nikitina, K. Yu. Mukhin, A. V. Kulikov
Format: Article
Language:Russian
Published: ABV-press 2017-02-01
Series:Russkij Žurnal Detskoj Nevrologii
Subjects:
phelan–mcdermid syndrome
del 22q13
r(22)
benign epileptiform discharges of childhood
autism
epilepsy
Online Access:https://rjdn.abvpress.ru/jour/article/view/183

Internet

https://rjdn.abvpress.ru/jour/article/view/183

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