Mosaic trisomy 9 syndrome with unusual phenotype.
We report on a newborn infant with mosaic trisomy 9. The patient shared only a few anomalies with the previously reported cases of this chromosome abnormality but had a severe craniofacial malformation not yet reported in this syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002906:Chromosomes, Human, 6-12 and X; D005124:Eye Abnormalities; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009030:Mosaicism; D009666:Nose / Q000002:abnormalities; D010641:Phenotype; D012886:Skull / Q000002:abnormalities; D014314:Trisomy