From the Medical Literature - December 1999

Record  1
 
  Williams syndrome: an update on clinical and molecular aspects.
  Metcalfe K
  Department  of  Clinical  Genetics St Mary's Hospital Manchester M13 0JH,
UK.
  Arch Dis Child (ENGLAND)   Sep 1999,  81 (3) p198-200,  ISSN 0003-9888
  Languages: ENGLISH
  Document type: JOURNAL ARTICLE
 
Record  2

  [Clinical  characterization,  molecular  and  FISH studies in 80 patients
with clinical suspicion of Williams-Beuren syndrome]
  Caracterizacion  clinica  y genetica de 80 pacientes con sospecha clinica
de sindrome de Williams-Beuren.
  Mila M; Carrio A; Sanchez A; Gomez D; Jimenez D; Estivill X; Ballesta F
  Servicio   de   Genetica,   Hospital   Clinic  i  Provincial,  Barcelona.
[email protected]
  Med Clin (Barc) (SPAIN)   Jun 19 1999,  113 (2) p46-9,  ISSN 0025-7753
  Languages: SPANISH   Summary Languages: ENGLISH
  Document type: JOURNAL ARTICLE   English Abstract

  BACKGROUND:   Williams-Beuren   syndrome   is  a  developmental  disorder
affecting  vascular  and connective tissues and central nervous system. The
syndrome  is  caused  by  a  submicroscopic  deletion  in  the chromosome 7
implicating  the  7q11.23 region. Fluorescence in situ hybridization (FISH)
and  molecular  studies  allow us to confirm the clinical suspicion of this
syndrome.  PATIENTS  AND METHODS: We report clinical evaluation, FISH using
Elastin  Williams/D7S427  probe  and  molecular study with markers: D7S672,
D7S653,  D7S489B,  D7S2476, D7S1870 and D7S489A, in 80 patients referred to
test  for  Williams-Beuren syndrome. RESULTS: We found hemizygosity for the
critical  region  in  36 patients. From 69 cases studied by FISH, 28 showed
the  deletion.  Molecular studies in 78 cases showed loss of heterozygosity
(LOH) in 26 patients. The patients presented the deletion from the paternal
or  maternal  chromosome  at equal frequency. Clinical evaluation of mental
retardation,  facial features, esotopia dental, malocclusion, hoarse voice,
supravalvular   aortic  stenosis  (SVAS),  hernias,  join  limitation,  WBS
personality  and  mental  retardation  from  positive and negative patients
showed  estatistical  significant  differences  for all items except mental
retardation  and  joint  limitation.  The  most  significant  item  was the
presence of SVAS. CONCLUSION: This study confirms the usefulness of genetic
studies as a diagnostic tool for William-Beuren Syndrome.

Record  3
 
  [Cofilin   phosphorylation   and   regulation   of   actin   cytoskeletal
reorganization by LIM-kinase]
  Mizuno K
  Biological  Institute,  Graduate  School  of  Science, Tohoku University,
Sendai.
  Seikagaku (JAPAN)   May 1999,  71 (5) p345-50,  ISSN 0037-1017
  Languages: JAPANESE
  Document type: JOURNAL ARTICLE; REVIEW; REVIEW, TUTORIAL
  (21 Refs.)

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