PMID- 9926515
OWN - NLM
STAT- MEDLINE
DCOM- 19990218
LR  - 20150901
IS  - 0001-6578 (Print)
IS  - 0001-6578 (Linking)
VI  - 39
IP  - 6
DP  - 1998 Nov-Dec
TI  - FISH analysis in both classical and atypical cases of Williams-Beuren syndrome.
PG  - 398-403
AB  - Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder, 
      characterized by distinct facial changes, growth deficiency, mental retardation, 
      supravalvular aortic stenosis (SVAS)/peripheral pulmonary stenosis, and 
      associated at times with infantile hypercalcemia. A pilot study has been carried 
      out to assess the reliability of the detection of hemizygosity at the elastin 
      locus by fluorescence in situ hybridization (FISH) analysis as a diagnostic test 
      in both classical and atypical WBS. Eight subjects with classical WBS and four 
      others in whom a diagnosis could not be confirmed on clinical criteria alone were 
      enrolled. In the classical WBS group, five (5/8) had a visible interstitial 
      7q11.22-11.23 deletion detected by high-resolution banding, and all (8/8) had a 
      submicroscopic deletion of the elastin locus on chromosome 7 by FISH analysis. In 
      the atypical WBS group, only one (1/4) had elastin deletion. The other three, 
      with isolated SVAS, had normal development and minimal signs of WBS. Furthermore, 
      the patients with microscopic 7q11.22-11.23 deletion have more associated 
      features of WBS than those without visible interstitial deletions by 
      high-resolution banding. These results, therefore, emphasize the importance of a 
      combined high-resolution and molecular cytogenetic (i.e., FISH) approach to 
      diagnosis and suggest that the degree to which microscopic/submicroscopic 
      deletions of chromosome 7 extending in beyond the elastin locus may explain some 
      of the phenotypical variability found in WBS.
FAU - Hou, J W
AU  - Hou JW
AD  - Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
FAU - Wang, J K
AU  - Wang JK
FAU - Wang, T R
AU  - Wang TR
LA  - eng
PT  - Journal Article
PL  - China (Republic : 1949- )
TA  - Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
JT  - Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er 
      ke yi xue hui
JID - 16210470R
RN  - 0 (Genetic Markers)
RN  - 9007-58-3 (Elastin)
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - Chromosomes, Human, Pair 7
MH  - Elastin/*genetics
MH  - Female
MH  - Gene Deletion
MH  - Genetic Markers
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
MH  - Williams Syndrome/*diagnosis/genetics
EDAT- 1999/02/02 00:00
MHDA- 1999/02/02 00:01
CRDT- 1999/02/02 00:00
PHST- 1999/02/02 00:00 [pubmed]
PHST- 1999/02/02 00:01 [medline]
PHST- 1999/02/02 00:00 [entrez]
PST - ppublish
SO  - Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1998 Nov-Dec;39(6):398-403.