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 1970 Volume: 48 Number: 3

IZ

https://izlik.org/JA77NJ43KC

Cite

RIS / Bibtex

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

A case with angelman syndrome

Abstract

Keywords