PMID- 9044396
OWN - NLM
STAT- MEDLINE
DCOM- 19970521
LR  - 20190909
IS  - 0887-8994 (Print)
IS  - 0887-8994 (Linking)
VI  - 16
IP  - 1
DP  - 1997 Jan
TI  - Angelman syndrome assessed by neurological and molecular cytogenetic 
      investigations.
PG  - 17-22
AB  - Angelman syndrome (AS) is characterized by severe psychomotor retardation, speech 
      impairment, happy disposition with bursts of laughter, ataxia, convulsions, and 
      some distinct physical anomalies. Correct diagnosis of AS is important because of 
      its clinical implications, and once the disease is confirmed, familial genetic 
      counseling becomes crucial. We evaluated 22 patients with a putative diagnosis of 
      AS by both clinical and molecular cytogenetic analysis. A deletion of the region 
      15q11-13 could be identified cytogenetically in 11 cases by high-resolution 
      technique (group I). Four additional cases were confirmed by fluorescence in situ 
      hybridization (FISH) study with D15S11, SNRPN, D15S10, and GABRB 3 [Prader-Willi 
      syndrome (PWS)/AS region probes] (group II). The common deletion of GABRB 3 was 
      documented in those AS cases (n = 15) by FISH. The other 7 cases exhibited no 
      deletion over 15q11-13 at either the cytogenetic or molecular level (group III). 
      We compared the following associated neurological disorders: convulsions and 
      abnormal EEG, microcephaly, sleep and behavior problems, brain anomalies proved 
      by image studies, sexual precocity with pineal tumor among the three groups, as 
      well as other clinical conditions including congenital heart disease, obesity, 
      scoliosis, and hypopigmentation. In the present study, the differences in 
      neurological and facial characteristics were not distinct among these groups. 
      However, the associated conditions were more frequently observed in the patients 
      with deletion than in those without deletion. The EEG features of AS appear to be 
      less sufficient in helping identify patients at an early age before the clinical 
      features become obvious. Therefore, a region involved in the major As phenotypes 
      may contain only one or more tightly contiguous genes around the GABRB 3 locus, 
      which may explain the clinical heterogeneity in AS.
FAU - Hou, J W
AU  - Hou JW
AD  - Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
FAU - Wang, P J
AU  - Wang PJ
FAU - Wang, T R
AU  - Wang TR
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Pediatr Neurol
JT  - Pediatric neurology
JID - 8508183
RN  - 0 (DNA Probes)
SB  - IM
MH  - Adolescent
MH  - Angelman Syndrome/diagnosis/*genetics
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 15
MH  - DNA Probes
MH  - Diagnosis, Differential
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - *Neurologic Examination
MH  - Phenotype
MH  - Prader-Willi Syndrome/diagnosis/genetics
EDAT- 1997/01/01 00:00
MHDA- 1997/01/01 00:01
CRDT- 1997/01/01 00:00
PHST- 1997/01/01 00:00 [pubmed]
PHST- 1997/01/01 00:01 [medline]
PHST- 1997/01/01 00:00 [entrez]
AID - S0887899496002640 [pii]
AID - 10.1016/s0887-8994(96)00264-0 [doi]
PST - ppublish
SO  - Pediatr Neurol. 1997 Jan;16(1):17-22. doi: 10.1016/s0887-8994(96)00264-0.