Structural rearrangements in the parents of children with primary trisomy 21

A retrospective cytogenetic study was carried out on the parents of children with regular trisomy 21 Down's syndrome. In a total of 128 parents referred routinely to our laboratory after the birth of their affected child, three structural abnormalities, a reciprocal translocation and two pericentric inversions not involving chromosome 21, were detected. This is about 10 times the frequency expected based on current figures from consecutive newborn studies. In addition, the brother of one of nine older people with trisomy 21 referred for cytogenetic analysis for the first time was found to have a reciprocal translocation. This supports the contention made by others that an interchromosomal effect does exist in man. It is suggested that centres who routinely analyse the parents of their trisomy 21 referrals in an unbiased fashion should review their records. They will almost certainly contain useful information regarding the possible existence of this phenomenon and may even contain clues as to its nature. In addition to its undoubted scientific value, such data should prove useful in the genetic counselling of carriers of structural rearrangements.