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Prenatal diagnosis of monosomy 18 and ring chromosome 18 mosaicism
Author(s) -
Eiben B.,
Unger M.,
Stoltenberg G.,
Rutt G.,
Goebel R.,
Meyer A.,
Gamerdinger U.,
Hammans W.,
Hansen S.,
Hauss H.,
Vogel M.,
Schwanitz G.
Publication year - 1992
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970121114
Subject(s) - ring chromosome , monosomy , prenatal diagnosis , aneuploidy , genetics , chromosome , karyotype , chromosome 21 , medicine , biology , pregnancy , fetus , gene
The case of monosomy 18/ring chromosome 18 mosaicism which was detected prenatally by amniocentesis is presented. The pregnancy was terminated in week 18. Autopsy showed complex malformation of the fetus consisting of cebocephaly, hypotelorism, microphthalmia, severe defects of brain development, and arrest of placental maturation.