| Title |
Case report of Smith-Magenis syndrome in Lithuanian university of health sciences / |
| Authors |
Mikelionis, Lukas ; Mickevičiūtė, Giedrė ; Serapinas, Danielius |
| Full Text |
|
| Is Part of |
Medicinos mokslai. Medical sciences... Warszawa : Research center of Health Sciences Virtual office for publication affairs. 2016, vol. 3, no. 3, p. 1-6.. ISSN 2345-0592 |
| Keywords [eng] |
Smith-Magenis ; Syndrome ; Genetics |
| Abstract [eng] |
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. |
| Published |
Warszawa : Research center of Health Sciences Virtual office for publication affairs |
| Type |
Journal article |
| Language |
English |
| Publication date |
2016 |
