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PubMed1988

[Balanced chromosome abnormalities with abnormal phenotype].

In this report we summarized our experience (1970-1986) on autosomal reciprocal translocations with particular interest towards the possible excess of mental retardation and congenital malformations in carriers of apparently balanced chromosomal rearrangements. The present data confirm the previous findings that the association of MR/MCA and apparently balanced autosomal chromosomal rearrangements is much higher than expected by chance.

Chromosome Aberrations↗
PubMedDate not supplied

[The Emilia-Romagna Abnormalities Study Group: coverage and geographic distribution of congenital abnormalities in Emilia-Romagna].

Systems for monitoring Congenital Malformations (C.M.) have been taken up by most Countries, even though there is great diversity in the methods of data collection. In Italy nothing existed until 1977. In 1978 in the Emilia-Romagna Region an epidemiological Program began for the surveillance and monitoring of all C.M. diagnosed in the first 7 days of life in the newborn babies and in the stillbirths of over 28 weeks of gestational age. After three years of monitoring-1978 to 1980-we have reached the baseline data which is the fundamental prerequisite to ensure comparability of data from different centers and within our region in different periods too. The incidence of all C.M. was 1.9% in the first three years of monitoring with no statistical difference from year to year or between the Districts of the Region. For six selected C.M. we studied the incidence in the Region and also in the four Districts starting from 1978. Our data is comparable to that reported in the other Countries but we observed high incidence of Down Syndrome (17.2 per 10,000 births that is one of the highest values detected = 1 case every 582 newborn babies). For hypospadias we observed, starting from the second quarter of 1980, a progressive increase that dropped however in the first quarter of 1981. No etiologic clues have yet been revealed.

Congenital Abnormalities↗