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A rare case of de novo distal 19q trisomy prenatally diagnosed
Author(s) -
Rombout Sonia,
Sartenaer Daniel,
Parmentier Benoît,
Dugauquier Christian,
Gillerot Yves
Publication year - 2004
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.995
Subject(s) - trisomy , chromosomal abnormality , autopsy , cytogenetics , abnormality , congenital malformations , prenatal diagnosis , aneuploidy , medicine , chromosome abnormality , pregnancy , chromosome , fetus , pathology , biology , genetics , karyotype , gene , psychiatry
We present a case of de novo trisomy of distal 19q diagnosed prenatally by cytogenetics and FISH analysis. The autopsy performed after termination of the pregnancy showed major internal and external malformations that are associated with this chromosome abnormality. Copyright © 2004 John Wiley & Sons, Ltd.