Recurrence risks in a consecutive series of congenitally malformed children dying in the perinatal period
- 23 April 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 9 (3) , 307-314
- https://doi.org/10.1111/j.1399-0004.1976.tb01579.x
Abstract
During a 4 1/2-yr period a special study of 207 consecutive perinatal deaths, including clinical, genetical, roentgenological and autopsy investigations, was undertaken with the aim of identifying inherited malformations with a a high risk of recurrence to subsequent sibs. Fifty-three of the children dying perinatally were malformed. In 13 cases the cause of the malformation was purely genetic; 11 were caused by mutant genes of large effect, and 2 by chromosomal aberrations. Information from such a study provides a good basis for genetic counseling of the family.This publication has 8 references indexed in Scilit:
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