PMID- 18664077
OWN - NLM
STAT- MEDLINE
DCOM- 20080911
LR  - 20080730
IS  - 0041-4301 (Print)
IS  - 0041-4301 (Linking)
VI  - 50
IP  - 2
DP  - 2008 Mar-Apr
TI  - Angelman syndrome: clinical findings and follow-up data of 14 patients.
PG  - 137-42
AB  - The diagnosis of Angelman syndrome (AS) is based on the clinical features, 
      behavior, EEG findings, and genetic abnormalities. The physical, clinical and 
      behavioral aspects appear to attributable to localized central nervous system 
      (CNS) dysfunction of the ubiquitin ligase gene, UBE3A, located at 15q11.2. The 
      features of AS frequently become apparent at 1-4 years of age, and the average 
      age at diagnosis is 6 years. Angelman syndrome was considered in the differential 
      diagnosis of 30 patients who were referred to the Medical Genetics Department of 
      Istanbul Medical Faculty between 1995 and 2005. The diagnosis was confirmed in 14 
      patients (8 female, 6 male) by detecting the presence of deletion through the use 
      of fluorescence in situ hybridization (FISH) technique in all, while 
      high-resolution banding technique (HRBT) detected only seven of the deletions. 
      The patients' ages at the time of diagnosis ranged from 2 to 12 (mean 
      4.10+/-2.59) years. We report here on 14 patients with definite diagnosis of AS 
      who displayed the characteristic clinical features of the syndrome and additional 
      findings not previously reported, along with the follow-up data concerning 
      neuromotor development and seizures.
FAU - Kara, Bulent
AU  - Kara B
AD  - Department of Pediatrics, Kocaeli University Faculty of Medicine, Kocaeli, 
      Turkey.
FAU - Karaman, Birsen
AU  - Karaman B
FAU - Ozmen, Meral
AU  - Ozmen M
FAU - Rosti, Rasim Ozgur
AU  - Rosti RO
FAU - Caliskan, Mine
AU  - Caliskan M
FAU - Kayserili, Hulya
AU  - Kayserili H
FAU - Basaran, Seher
AU  - Basaran S
LA  - eng
PT  - Journal Article
PL  - Turkey
TA  - Turk J Pediatr
JT  - The Turkish journal of pediatrics
JID - 0417505
SB  - IM
MH  - Adult
MH  - Angelman Syndrome/*diagnosis
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - Female
MH  - Follow-Up Studies
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
EDAT- 2008/07/31 09:00
MHDA- 2008/09/13 09:00
CRDT- 2008/07/31 09:00
PHST- 2008/07/31 09:00 [pubmed]
PHST- 2008/09/13 09:00 [medline]
PHST- 2008/07/31 09:00 [entrez]
PST - ppublish
SO  - Turk J Pediatr. 2008 Mar-Apr;50(2):137-42.