Partial monosomy 13q and partial trisomy 18p: case report with necropsy findings.
We describe a stillborn female infant with severe intrauterine growth retardation and multiple congenital anomalies. She was found to have a deletion of 13q22----qter and trisomy of 18p11.2----pter, resulting from a maternal balanced translocation.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D002901:Chromosomes, Human, 13-15; D002902:Chromosomes, Human, 16-18; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics / Q000473:pathology; D005333:Fetus / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D011247:Pregnancy; D014178:Translocation, Genetic; D014314:Trisomy