Use this url to cite publication: https://cris.mruni.eu/cris/handle/007/38036
Case report of Smith-Magenis syndrome in Lithuanian university of health sciences
Type of publication
Straipsnis kitoje duomenų bazėje / Article in other database (S4)
Author(s)
| Author(s) | |
|---|---|
Mikelionis, Lukas | Lietuvos sveikatos mokslų universitetas |
Mickevičiūtė, Giedrė | Lietuvos sveikatos mokslų universitetas |
Title
Case report of Smith-Magenis syndrome in Lithuanian university of health sciences
Publisher (trusted)
Research center of Health Sciences Virtual office for publication affairs |
Date Issued
| Date Issued |
|---|
2016 |
Extent
p. 1-6
Is part of
Medicinos mokslai. Medical sciences.. Warszawa : Research center of Health Sciences Virtual office for publication affairs, 2016, vol. 3, no. 3.
Field of Science
Keywords (lt)
Keywords (en)
Abstract (en)
Smith - Magenis syndrome (SMS) is characterized by distinctive physical features, developmental delay, cognitive impairment, sleep disturbances, and behavioral abnormalities such as aggression , self - injurious behaviors due to decreased sensitivity to pain. The syndrome is caused p rimarily by de novo interstitial deletions of chromosome 17p11.2, which can range from 1.5 to 9 Mb in size . We present case report of 2 years girl with Smith Magenis syndrome, that was confirmed with FISH analysis. This case shows the importance of FISH te sting when patient has phenotypic signs of microdeleti o n syndromes.
Is Referenced by
Type of document
type::text::journal::journal article::research article
ISSN (of the container)
2345-0592
eLABa
17054664
Coverage Spatial
Lenkija / Poland (PL)
Language
Anglų / English (en)
Bibliographic Details
14
Access Rights
Atviroji prieiga / Open Access