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Digeorge syndrome with total monosomy 22 diagnosed prenatally
Author(s) -
Merino A.,
De Perdigo A.,
Nomballais F.,
Yyinec M.,
Lopes P.
Publication year - 1995
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.1970150215
Subject(s) - digeorge syndrome , monosomy , aneuploidy , autopsy , fetus , medicine , pregnancy , down syndrome , trisomy , prenatal diagnosis , obstetrics , pediatrics , pathology , karyotype , chromosome , biology , genetics , psychiatry , gene
A case of monosomy 22 diagnosed prenatally is reported. During pregnancy, ultrasonic observations already revealed several cardiac malformations of the fetus in the 25th week. Following counselling, the pregnancy was terminated. Fetal autopsy revealed several abnormalities associated with DiGeorge syndrome.