PMID- 9071842
OWN - NLM
STAT- MEDLINE
DCOM- 19970410
LR  - 20161013
IS  - 0929-6646 (Print)
IS  - 0929-6646 (Linking)
VI  - 96
IP  - 2
DP  - 1997 Feb
TI  - Microdeletion oe chromosomal region 7Q11.23 in Williams syndrome.
PG  - 137-40
AB  - We report two children with typical Williams syndrome facial appearance, growth 
      deficiency and developmental delay. Both had supravalvular aortic stenosis (SVAS) 
      and peripheral pulmonary stenosis (PPS), but no hypercalcemia. Chromosomal study 
      in the first case, a 40-day-old girl, revealed a cytogenetically visible proximal 
      interstitial deletion of the 7q11.22-11.23 segment. Another patient, a 3-year-old 
      boy, with a normal karyotype, had milder phenotype with spontaneous remission of 
      SVAS and PPS. Both patients showed allelic loss of the elastin (ELN) gene, 
      exhibiting a submicroscopic deletion at 7q11.23, which was detected by 
      fluorescence in situ hybridization (FISH). The results support the usefulness of 
      FISH for detection of ELN gene deletion as an initial diagnostic assay for 
      patients with SVAS or Williams syndrome. To our knowledge, these are the first 
      cases of Williams syndrome in Taiwanese patients to be proven clinically, 
      cytogenetically and by molecular analysis.
FAU - Hou, J W
AU  - Hou JW
AD  - Department of Pediatrics, National Taiwan University Hospital, Taipei, ROC.
FAU - Wang, J K
AU  - Wang JK
FAU - Wang, T R
AU  - Wang TR
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Singapore
TA  - J Formos Med Assoc
JT  - Journal of the Formosan Medical Association = Taiwan yi zhi
JID - 9214933
SB  - IM
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 7
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Male
MH  - Williams Syndrome/*genetics
EDAT- 1997/02/01 00:00
MHDA- 1997/02/01 00:01
CRDT- 1997/02/01 00:00
PHST- 1997/02/01 00:00 [pubmed]
PHST- 1997/02/01 00:01 [medline]
PHST- 1997/02/01 00:00 [entrez]
PST - ppublish
SO  - J Formos Med Assoc. 1997 Feb;96(2):137-40.