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Morphologic variants in parents of children with malformation syndromes: are they indicators of somatic mosaicism?
Author(s) -
Méhes Károly,
Kosztolányi György
Publication year - 1990
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.1399-0004.1990.tb03557.x
Subject(s) - proband , germline mosaicism , somatic cell , genetics , germline , germline mutation , biology , medicine , mutation , gene
The ostensibly normal parents of 27 probands with recessive or sporadic multiple malformation syndromes were reexamined. By means of careful investigations and anthropometric measurements in nine of them, morphologic variants were found that were compatible with the syndromes and were also observed in the proband. Although other factors should also be considered, the findings may be explained by germline and somatic mosaicism in the parents.