PMID- 7977469
OWN - NLM
STAT- MEDLINE
DCOM- 19941129
LR  - 20061115
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 52
IP  - 1
DP  - 1994 Aug 1
TI  - Comparison of high resolution chromosome banding and fluorescence in situ 
      hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and 
      Angelman syndrome.
PG  - 85-91
AB  - The development of probes containing segments of DNA from chromosome region 
      15q11-q13 provides the opportunity to confirm the diagnosis of Prader-Willi 
      syndrome (PWS) and Angelman syndrome (AS) by fluorescence in situ hybridization 
      (FISH). We have evaluated FISH studies and high resolution chromosome banding 
      studies in 14 patients referred to confirm or rule out PWS and five patients 
      referred to confirm or rule out AS. In four patients (three from the PWS category 
      and 1 from the AS group) chromosome analysis suggested that a deletion was 
      present but FISH failed to confirm the finding. In one AS group patient, FISH 
      identified a deletion not detectable by high resolution banding. Review of the 
      clinical findings in the discrepant cases suggested that the FISH results were 
      correct and high resolution findings were erroneous. Studies with a chromosome 15 
      alpha satellite probe (D15Z) on both normal and abnormal individuals suggested 
      that incorrect interpretation of chromosome banding may occasionally be 
      attributable to alpha satellite polymorphism but other variation of 15q11-q13 
      chromosome bands also contributes to misinterpretation. We conclude that patients 
      who have been reported to have a cytogenetic deletion of 15q11-q13 and who have 
      clinical findings inconsistent with PWS and AS should be re-evaluated by 
      molecular genetic techniques.
FAU - Delach, J A
AU  - Delach JA
AD  - University of Connecticut Health Center, Department of Pediatrics, Farmington.
FAU - Rosengren, S S
AU  - Rosengren SS
FAU - Kaplan, L
AU  - Kaplan L
FAU - Greenstein, R M
AU  - Greenstein RM
FAU - Cassidy, S B
AU  - Cassidy SB
FAU - Benn, P A
AU  - Benn PA
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
CIN - Am J Med Genet. 1995 Jul 17;57(4):639. PMID: 7573146
CIN - Am J Med Genet. 1995 May 8;56(4):420-2. PMID: 7604853
MH  - Angelman Syndrome/*genetics
MH  - *Chromosome Banding
MH  - Chromosome Deletion
MH  - *Chromosomes, Human, Pair 15
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Prader-Willi Syndrome/*genetics
EDAT- 1994/08/01 00:00
MHDA- 1994/08/01 00:01
CRDT- 1994/08/01 00:00
PHST- 1994/08/01 00:00 [pubmed]
PHST- 1994/08/01 00:01 [medline]
PHST- 1994/08/01 00:00 [entrez]
AID - 10.1002/ajmg.1320520117 [doi]
PST - ppublish
SO  - Am J Med Genet. 1994 Aug 1;52(1):85-91. doi: 10.1002/ajmg.1320520117.