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]