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

Ayrıntılar

Birincil Dil

Türkçe

Konular

-

Bölüm

-

Yazarlar

Hazan F

Ykut A

Serdaroğlu G

Gökben S

Akın H

Çoğullu Ö

Özkınay F

Yayımlanma Tarihi

1 Eylül 2009

Gönderilme Tarihi

1 Eylül 2009

Kabul Tarihi

-

Yayımlandığı Sayı

Yıl 2009 Cilt: 48 Sayı: 3

IZ

https://izlik.org/JA77NJ43KC

Kaynak Göster

RIS / Bibtex

Vancouver

1.Hazan F, Ykut A, Serdaroğlu G, Gökben S, Akın H, Çoğullu Ö, Özkınay F. Angelman sendromu: bir olgu sunumu. ETD [Internet]. 01 Eylül 2009;48(3):195-8. Erişim adresi: https://izlik.org/JA77NJ43KC

A case with angelman syndrome

Abstract

Keywords