12P trisomy: a syndrome?
A 2 2/3-year-old girl with 12p trisomy resulting from a maternal translocation is presented. Her clinical symptoms are strikingly similar to the other four cases known in the literature. A characteristic combination of symptoms for a 12p trisomy syndrome is delineated.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D011596:Psychomotor Disorders / Q000235:genetics*; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy