The spectrum of microdeletian syndromes at the hospital of Lithuanian University of Health Sciences

Karina Česnaitytė, Danielius Serapinas

Research output: Contribution to journalArticle

Abstract

Microdeletion syndrome is a rare condition which can be diagnosed by fluorescent in situ hybridization (FISH) method. We analyzed microdeletion syndromes cases during ten years period (2005-2015) at The Hospital of Lithuanian University of Health Sciences. We report 2 patients with Prader-Willi syndrome, 2 patients with Smith-Magenis syndrome, 1 patient with Angelman syndrome and 1 patient with Cri du Chat syndrome. All syndromes were confirmed by FISH. These cases contain mainly data about phenotype abnormalities and clinical symptoms.
Original languageEnglish
Pages (from-to)859-866
JournalGenetika
Volume48
Issue number3
DOIs
Publication statusPublished - 2016

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Health
fluorescence in situ hybridization
Fluorescence In Situ Hybridization
Smith-Magenis Syndrome
Cri-du-Chat Syndrome
Angelman Syndrome
Prader-Willi Syndrome
signs and symptoms (animals and humans)
Phenotype
phenotype
methodology

Keywords

  • Microdeletion syndrome
  • Fluorescence in situ hybridization (FISH)
  • Phenotype

Cite this

The spectrum of microdeletian syndromes at the hospital of Lithuanian University of Health Sciences. / Česnaitytė, Karina; Serapinas, Danielius.

In: Genetika, Vol. 48, No. 3, 2016, p. 859-866.

Research output: Contribution to journalArticle

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