Chromosome abnormalities in children, in two Danish counties, born during the period 1967–1978 Clinical data

摘要

Approximately 1 per 1,000 children in a population of 477,000 showed a chromosome abnormality, the expected frequency being 6 per 1,000. The majority of the autosomal abnormalities was trisomy 21 (72 %). The clinical pictures of different autosomal, as well as sex chromosomal abnormalities are described, and different aetiological factors are discussed.Children with the well known autosomal trisomy syndromes were diagnosed to a satisfactory degree, whereas too few were diagnosed of the less well known structural aberrations, deletions, derivatives and unbalanced translocations of all types, as well as of sex chromosome abnormalities. The possibilities of diagnosing more of these chromosome abnormalities are discussed.All autosomal trisomies, unbalanced structural chromosome abnormalities, as well as girls with Turner's syndrome and, to a certain extent, boys with Klinefelter's syndrome could most probably be diagnosed during childhood with a sufficiently intensive cooperation between the general practitioners, obstetricians and paediatricians and the cytogeneticists. It is important to diagnose children with inheritable structural chromosome abnormalities in order to find risk families and to give realistic information, advice, and counselling to the parents, as well as hormone treatment to children with Turner's syndrome and Klinefelter's syndrome at the most suitable age.