PMID- 8882776
OWN - NLM
STAT- MEDLINE
DCOM- 19961213
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 62
IP  - 3
DP  - 1996 Mar 29
TI  - FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes.
PG  - 217-23
AB  - We have evaluated fluorescence in situ hybridization (FISH) analysis for the 
      clinical laboratory detection of the 15q11-q13 deletion seen in Prader-Willi 
      syndrome (PWS) and Angelman syndrome (AS) using probes for loci D15S11, SNRPN, 
      D15S10, and GABRB3. In a series of 118 samples from patients referred for PWS or 
      AS, 29 had deletions by FISH analysis. These included two brothers with a 
      paternally transmitted deletion detectable with the probe for SNRPN only. 
      G-banding analysis was less sensitive for deletion detection but useful in 
      demonstrating other cytogenetic alterations in four cases. Methylation and 
      CA-repeat analyses of 15q11-q13 were used to validate the FISH results. Clinical 
      findings of patients with deletions were variable, ranging from newborns with 
      hypotonia as the only presenting feature to children who were classically 
      affected. We conclude that FISH analysis is a rapid and reliable method for 
      detection of deletions within 15q11-q13 and whenever a deletion is found, FISH 
      analysis of parental chromosomes should also be considered.
FAU - Teshima, I
AU  - Teshima I
AD  - Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada.
FAU - Chadwick, D
AU  - Chadwick D
FAU - Chitayat, D
AU  - Chitayat D
FAU - Kobayashi, J
AU  - Kobayashi J
FAU - Ray, P
AU  - Ray P
FAU - Shuman, C
AU  - Shuman C
FAU - Siegel-Bartelt, J
AU  - Siegel-Bartelt J
FAU - Strasberg, P
AU  - Strasberg P
FAU - Weksberg, R
AU  - Weksberg R
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
EIN - Am J Med Genet 1996 Aug 23;64(3):527
MH  - Angelman Syndrome/*genetics
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 15
MH  - Dinucleotide Repeats
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Methylation
MH  - Prader-Willi Syndrome/*genetics
EDAT- 1996/03/29 00:00
MHDA- 1996/03/29 00:01
CRDT- 1996/03/29 00:00
PHST- 1996/03/29 00:00 [pubmed]
PHST- 1996/03/29 00:01 [medline]
PHST- 1996/03/29 00:00 [entrez]
AID - 10.1002/(sici)1096-8628(19960329)62:3<216::aid-ajmg3>3.3.co;2-0 [doi]
PST - ppublish
SO  - Am J Med Genet. 1996 Mar 29;62(3):217-23. doi: 
      10.1002/(sici)1096-8628(19960329)62:3<216::aid-ajmg3>3.3.co;2-0.