PMID- 7747771
OWN - NLM
STAT- MEDLINE
DCOM- 19950613
LR  - 20061115
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 56
IP  - 1
DP  - 1995 Mar 13
TI  - Angelman syndrome: validation of molecular cytogenetic analysis of chromosome 
      15q11-q13 for deletion detection.
PG  - 101-5
AB  - In a series of 18 individuals comprising parents of Angelman syndrome (AS) 
      patients and AS patients with large deletions, microdeletions, and no deletions, 
      we utilized fluorescence in situ hybridization (FISH) with genomic phage clones 
      for loci D15S63 and GABRB3 for deletion detection of chromosome 15q11-q13. 
      Utilization of probes at these loci allows detection of common large deletions 
      and permits discrimination of less common small deletions. In all individuals the 
      molecular cytogenetic data were concordant with the DNA deletion analyses. FISH 
      provides an accurate method of deletion detection for chromosome 15q11-q13.
FAU - White, L
AU  - White L
AD  - Division of Genetics, Children's Hospital, Boston, MA 02115, USA.
FAU - Knoll, J H
AU  - Knoll JH
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Angelman Syndrome/*diagnosis/genetics
MH  - Cell Line, Transformed
MH  - *Chromosome Deletion
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 15
MH  - DNA/blood
MH  - DNA Mutational Analysis
MH  - Herpesvirus 4, Human/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
EDAT- 1995/03/13 00:00
MHDA- 1995/03/13 00:01
CRDT- 1995/03/13 00:00
PHST- 1995/03/13 00:00 [pubmed]
PHST- 1995/03/13 00:01 [medline]
PHST- 1995/03/13 00:00 [entrez]
AID - 10.1002/ajmg.1320560123 [doi]
PST - ppublish
SO  - Am J Med Genet. 1995 Mar 13;56(1):101-5. doi: 10.1002/ajmg.1320560123.