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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 al 7proposed that combinations of anomalies of blastogenetic origin, such as VATER/VACTERL, should be considered and called “polytopic field defects” instead of the generic term “association”.
The knowledge that maternal intake of some teratogens, such as oestroprogestins8 or methimazole,9 may be associated with VATER/VACTERL in the newborn, probably affecting blastogenesis, and familial occurrence of VASTER/VACTERL10 11 suggest heterogeneity in the pathogenesis of the association, although it appears that the underlying causative event takes place at a very early stage of embryonic development.
Only one chromosome abnormality has been described in VATER association, a patient with an interstitial 6q deletion,12while an additional case of VATER with 9qh+ has been reported.13
We report here an additional patient with malformations characteristic of VATER association and mosaicism for a small supernumerary ring chromosome derived from the pericentromeric region of chromosome 12.
The proband was the term product of an uneventful pregnancy, requiring elective caesarean section because of uterine inertia. Birth weight …