J Med Genet

HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER
[Advanced]

This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this link to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Add article to my folders
Right arrow Download to citation manager
Right arrowRequest Permissions
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by CINTI, R.
Right arrow Articles by RAVAZZOLO, R.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by CINTI, R.
Right arrow Articles by RAVAZZOLO, R.
J Med Genet 2001;38:e6 ( February )

Electronic letters

Molecular characterisation of a supernumerary ring chromosome in a patient with VATER association

The first 150 words of the full text of this article appear below.

EDITOR---Supernumerary marker chromosomes are rare with an incidence of 0.3-1.5/1000 newborns. Most carriers have a normal phenotype but in 15% of non-satellited marker cases mental retardation and minor anomalies have been reported.1 The origin of several supernumerary ring marker chromosomes has been identified by fluorescence in situ hybridisation (FISH).2 The VATER association is characterised by non-random occurrence of Vertebral anomalies, Anal atresia, Tracheo-oesophageal fistula with Esophageal atresia, Radial limb dysplasia, and Renal defects.3 The acronym VACTERL is used in cases with additional Cardiac and Limb malformations.4 VACTERL with hydrocephalus is thought to be an autosomal recessive disorder distinct from the VATER association.5 Other defects that occur less frequently have been also described.6 A defect in blastogenesis was suggested as a possible aetiology of this malformation spectrum. Martìnez-Frìas et al7 proposed that combinations of anomalies of blastogenetic origin, such as VATER/VACTERL, should be considered and called "polytopic field defects" . . . [Full text of this article]







HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER
Terms and conditions relating to subscriptions purchased online  ¦  Website terms and conditions  ¦  Privacy policy
Copyright © 2001 by the BMJ Publishing Group Ltd.