Trisomy of chromosome 20.
A neonate with ususual facial features and multiple congenital malformations expired at 4 hours of age. An autopsy revealed severe anomalies of the gastrointestinal system and spinal dysplasia. Cytogenetic evaluation of fibroblasts cultured from a lung biopsy revealed a karyotope of 47,XX,+20.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002903:Chromosomes, Human, 19-20; D004065:Digestive System Abnormalities; D005145:Face; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D013131:Spine / Q000002:abnormalities; D014314:Trisomy