medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2020.01.6-12medgen-763Research ArticleНАУЧНЫЕ ОБЗОРЫREVIEWМеханизмы формирования инвертированной дупликации со смежной терминальной делецией короткого плеча хромосомы 8Formation of inverted duplication contiguous to a terminal deletion of short arm of chromosome 8ЮрченкоД. А.YurchenkoD. A.

Юрченко Дарья

Москва

Yurchenko Daria

Moscow

 

dashalbv@mail.ruДадалиЕ. Л.DadaliE. L.

Москва

Moscow

ШиловаН. В.ShilovaN. V.

Москва

Moscow

ФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияResearch Centre for Medical Genetics n.a. N.P. BochkovRussian Federation202006052020191612Copyright © Юрченко Д.А., Дадали Е.Л., Шилова Н.В., 20202020Юрченко Д.А., Дадали Е.Л., Шилова Н.В.Yurchenko D.A., Dadali E.L., Shilova N.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/763

Синдром инвертированной дупликации со смежной делецией короткого плеча хромосомы 8 (inv dup del(8p)) – редкая хромосомная аномалия, частота которой составляет 1: 10 000 – 30 000 живорожденных. Клиническими проявлениями синдрома являются умственная отсталость, лицевые дизморфии, пороки развития ЦНС (гипоплазия/агенезия мозолистого тела), сколиоз/кифоз, гипотония, врожденные пороки сердца.

На сегодняшний день известно несколько моделей, объясняющих формирование инвертированных дупликаций, ассоциированных с терминальными делециями в геноме человека. В обзоре рассмотрены особенности механизмов формирования inv dup del(8p) и представлены литературные данные о молекулярно-цитогенетических характеристиках хромосомной перестройки.

Inverted duplication deletion 8p syndrome (inv dup del(8p)) is a rare chromosomal abnormality with a frequency of 1:10,000 – 30,000 newborns. Clinical manifestations of this syndrome include mental retardation, facial anomalies, hypoplasia/agenesis of corpus callosum, scoliosis and/or kyphosis, hypotonia, congenital heart defects.

Several models are proposed to explain the formation of inverted duplications adjacent to terminal deletions in the human genome. The features of inv dup del (8p) formation mechanisms and reported data on molecular cytogenetic characteristics of chromosomal rearrangement are considering in this review.

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