PMID- 9831341
OWN - NLM
STAT- MEDLINE
DCOM- 19990113
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 54
IP  - 4
DP  - 1998 Oct
TI  - Unusual clinical features in an Angelman syndrome patient with uniparental disomy 
      due to a translocation 15q15q.
PG  - 303-8
AB  - We had previously described a patient with an overgrowth syndrome and the 
      chromosome constitution 45,XY,t(15q15q) (Wajntal et al., DNA Cell Biol 1993: 12: 
      227-231). Clinical reassessment and the use of molecular studies, including 
      methylation analysis with an SNRPN probe, microsatellite analyses of D15S11, 
      GABRB3 and D15S113 loci, and fluorescence in situ hybridization (FISH) using the 
      SNRPN and GABRB3 probes, are consistent with a diagnosis of Angelman syndrome 
      (AS) due to paternal isodisomy. This is the fourth report case of a translocation 
      15q15q with paternal uniparental disomy (UPD). Our findings suggest that some 
      patients with clinical features of AS have hyperphagia and obesity with 
      overgrowth, and that these features should not rule out a diagnosis of AS.
FAU - Fridman, C
AU  - Fridman C
AD  - Department of Biology, Institute of Bioscience, University of Sao Paulo, SP, 
      Brazil. cfridman@usp.br
FAU - Varela, M C
AU  - Varela MC
FAU - Nicholls, R D
AU  - Nicholls RD
FAU - Koiffmann, C P
AU  - Koiffmann CP
LA  - eng
GR  - HD31491/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Angelman Syndrome/*genetics/pathology
MH  - Child
MH  - Child, Preschool
MH  - Chromosomes, Human, Pair 15/*genetics
MH  - Fathers
MH  - *Genomic Imprinting
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Translocation, Genetic
EDAT- 1998/11/27 00:00
MHDA- 1998/11/27 00:01
CRDT- 1998/11/27 00:00
PHST- 1998/11/27 00:00 [pubmed]
PHST- 1998/11/27 00:01 [medline]
PHST- 1998/11/27 00:00 [entrez]
AID - 10.1034/j.1399-0004.1998.5440407.x [doi]
PST - ppublish
SO  - Clin Genet. 1998 Oct;54(4):303-8. doi: 10.1034/j.1399-0004.1998.5440407.x.