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Recurrence risks in a consecutive series of congenitally malformed children dying in the perinatal period
Author(s) -
Gustavson K.H.,
Jorulf H.
Publication year - 1976
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1976.tb01579.x
Subject(s) - autopsy , genetic counseling , period (music) , medicine , pediatrics , congenital malformations , perinatal period , genetics , pregnancy , biology , pathology , physics , acoustics
During a 4x‐year 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 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 two by chromosomal aberrations. Information from such a study provides a good basis for genetic counselling of the family.