Angelman sendromu: bir olgu sunumu

Hazan F; Ykut A; Serdaroğlu G; Gökben S; Akın H; Çoğullu Ö; Özkınay F

EN TR

A case with angelman syndrome

Abstract

Angelman syndrome(AS) is a rare genetic disorder characterized by various abnormalties at the 15q11-q13 locus including deletions, uniparental disomy,methylation imprinting abnormalties, or a mutation in the UBE3A gene. Deletions of the 15q11q13 region are found in approximately 70% of AS patients. Affected individuals show severe mental retardation, delayed motor development, language impairment, and characteristic facies. Deletions of 15q11-q13 typically result in Angelman syndrome when inherited from the mother and Prader-Willi syndrome when inherited from the father. We present a child with developmental delay including severe speech impairment, happy disposition, wide-based gait, , a wide mouth, widely-spaced teeth, sleep disturbance and seizures. The karyotype was normal. Fluorescence in situ hybridization (FISH) was used for the detection of chromosome 15(q11-13) deletions (with probes from the PWS/AS region).

Keywords

Angelman syndrome

Details

Primary Language

Turkish

Subjects

-

Journal Section

-

Authors

Hazan F

Ykut A

Serdaroğlu G

Gökben S

Akın H

Çoğullu Ö

Özkınay F

Publication Date

September 1, 2009

Submission Date

September 1, 2009

Acceptance Date

-

Published in Issue

Year 2009 Volume: 48 Number: 3

IZ

https://izlik.org/JA77NJ43KC

Cite

RIS / Bibtex

APA

F, H., A, Y., G, S., S, G., H, A., Ö, Ç., & F, Ö. (2009). Angelman sendromu: bir olgu sunumu. Ege Tıp Dergisi, 48(3), 195-198. https://izlik.org/JA77NJ43KC

AMA

1.F H, A Y, G S, et al. Angelman sendromu: bir olgu sunumu. EJM. 2009;48(3):195-198. https://izlik.org/JA77NJ43KC

Chicago

F, Hazan, Ykut A, Serdaroğlu G, et al. 2009. “Angelman Sendromu: Bir Olgu Sunumu”. Ege Tıp Dergisi 48 (3): 195-98. https://izlik.org/JA77NJ43KC.

EndNote

F H, A Y, G S, S G, H A, Ö Ç, F Ö (September 1, 2009) Angelman sendromu: bir olgu sunumu. Ege Tıp Dergisi 48 3 195–198.

IEEE

[1]H. F et al., “Angelman sendromu: bir olgu sunumu”, EJM, vol. 48, no. 3, pp. 195–198, Sept. 2009, [Online]. Available: https://izlik.org/JA77NJ43KC

ISNAD

F, Hazan - A, Ykut - G, Serdaroğlu - S, Gökben - H, Akın - Ö, Çoğullu - F, Özkınay. “Angelman Sendromu: Bir Olgu Sunumu”. Ege Tıp Dergisi 48/3 (September 1, 2009): 195-198. https://izlik.org/JA77NJ43KC.

JAMA

1.F H, A Y, G S, S G, H A, Ö Ç, F Ö. Angelman sendromu: bir olgu sunumu. EJM. 2009;48:195–198.

MLA

F, Hazan, et al. “Angelman Sendromu: Bir Olgu Sunumu”. Ege Tıp Dergisi, vol. 48, no. 3, Sept. 2009, pp. 195-8, https://izlik.org/JA77NJ43KC.

Vancouver

1.Hazan F, Ykut A, Serdaroğlu G, Gökben S, Akın H, Çoğullu Ö, Özkınay F. Angelman sendromu: bir olgu sunumu. EJM [Internet]. 2009 Sep. 1;48(3):195-8. Available from: https://izlik.org/JA77NJ43KC