PMID- 9894799
OWN - NLM
STAT- MEDLINE
DCOM- 19990413
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 54
IP  - 6
DP  - 1998 Dec
TI  - The evaluation of 15q proximal duplications by FISH.
PG  - 517-21
AB  - Six patients from the clinical cytogenetics laboratory identified as having the 
      normal variant dup(15)(q12) were further evaluated using fluorescence in situ 
      hybridization (FISH). The purpose of this study was to ascertain whether any of 
      the Prader Willi Angelman Chromosome Region (PWCR and ANCR, respectively) loci 
      were duplicated in these patients. The results indicated that the patients could 
      be categorized into two groups. The first group showed no duplication of the PWCR 
      ANCR loci and appeared to belong to the dup(15)(q12) class which is 
      phenotypically silent and is therefore called the normal variant. The second 
      group also showed no duplication of the PWCR/ANCR loci. but had a large alpha 
      satellite variant with D15Z. It is hypothesized that these patients do not have a 
      duplication of 15q12 but rather a centromeric variant which mimics the 
      dup(15)(q12). This study confirms the importance of evaluating apparent 
      variations in the proximal region of chromosome 15 with FISH.
FAU - Riordan, D
AU  - Riordan D
AD  - Division of Laboratory Medicine and Pathology, Health Sciences Center, University 
      of Manitoba, Winnipeg, Canada.
FAU - Dawson, A J
AU  - Dawson AJ
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Angelman Syndrome/*genetics
MH  - Child
MH  - *Chromosomes, Human, Pair 15
MH  - Female
MH  - *Gene Duplication
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence/methods
MH  - Male
MH  - Middle Aged
MH  - Pedigree
MH  - Prader-Willi Syndrome/*genetics
EDAT- 1999/01/23 00:00
MHDA- 1999/01/23 00:01
CRDT- 1999/01/23 00:00
PHST- 1999/01/23 00:00 [pubmed]
PHST- 1999/01/23 00:01 [medline]
PHST- 1999/01/23 00:00 [entrez]
AID - 10.1111/j.1399-0004.1998.tb03773.x [doi]
PST - ppublish
SO  - Clin Genet. 1998 Dec;54(6):517-21. doi: 10.1111/j.1399-0004.1998.tb03773.x.