A rare case of de novo distal 19q trisomy prenatally diagnosed.
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.
Rombout
Sonia
S
Institut de Pathologie et de Génétique, Loverval, Belgium. sonia.rombouts@ipg.be
Sartenaer
Daniel
D
Parmentier
Benoît
B
Dugauquier
Christian
C
Gillerot
Yves
Y
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy / Q000175:diagnosis*