medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.1234/XXXX-XXXX-2015-11-14-17medgen-65Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHКлинико-генетические характеристики синдрома Фелан-МакДермидClinical and genetic characteristics of syndrome Phelan-McdermidДадалиЕ. Л.DadaliE. L.genclinic@yandex.ruКанивецИ. В.KanivetsI. V.noemail@neicon.ruШарковаИ. В.SharkovaI. V.noemail@neicon.ruФедеральное государственное бюджетное научное учреждение «Медико-генетический научный центр»РоссияFederal State Budgetary Institution «Research Centre of medical Genetics»Russian Federation20151606201614111417Copyright © Дадали Е.Л., Канивец И.В., Шаркова И.В., 20162016Дадали Е.Л., Канивец И.В., Шаркова И.В.Dadali E.L., Kanivets I.V., Sharkova I.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/65

Представлены клинико-генетические характеристики двух больных с синдромом Фелен-МакДермид, обусловленным делециями хромосомы 22q13, выявленными методами стандартного кариотипирования и хромосомного микроматричного анализа. Показано, что особенности клинических проявлений коррелируют с размером делеции, что обусловлено количеством входящих в ее область генов.

We present clinical and genetic characteristics of two patients with the syndrome of Phelen-McDermid due to deletions of chromosome 22q13 identified by standard karyotyping and chromosomal micromatrix analysis. It is shown that the peculiarities of the clinical manifestations correlate with the size of deletions due to number of genes of this region.

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The authors declare that there are no conflicts of interest present.