Use this url to cite publication: https://cris.mruni.eu/cris/handle/007/39856
Case report of Prader-Willi syndrome in Lithuanian University of Health Sciences
Type of publication
Straipsnis kitame recenzuojamame leidinyje / Article in other peer-reviewed edition (S5)
Author(s)
Author(s) | |
---|---|
Jokšas, Augustinas | Lietuvos sveikatos mokslų universitetas |
Mickevičiūtė, Giedrė | Lietuvos sveikatos mokslų universitetas |
Title [en]
Case report of Prader-Willi 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. 1-5
Is part of
Medicinos mokslai. Medical sciences.. Warszawa : Research center of Health Sciences Virtual office for publication affairs, 2016, vol. 3, no. 1.
Field of Science
Keywords (en)
Abstract (en)
Prader-Willi syndrome is (PWS) is a genetic disorder characterized during infancy by lethargy, feeding difficulties, hypotonia, and poor weight gain, in older age of untreated patients we can find obesity, developmental delay, short stature and other symptoms. This disease is caused by a microdeletion chromosome 15 region 15q11-13. We present case report of 12-years old girl with Prader-Willi syndrome that was confirmed with fluorescent in situ hybridization (FISH) analysis which shows the importance of this method for microdeletion syndromes.
Type of document
type::text::journal::journal article::research article
ISSN (of the container)
2345-0592
eLABa
16971974
Coverage Spatial
Lenkija / Poland (PL)
Language
Anglų / English (en)
Bibliographic Details
15