Partial trisomy 3q.
A new case of partial trisomy 3q is reported in a 5-year-old female with severe congenital malformations and psychomotor retardation. A review of the literature, with a total of 11 patients, allows us to conclude that the clinical picture reminiscent of the Cornelia de Lange syndrome is caused by the trisomic state.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans; D007621:Karyotyping; D010375:Pedigree; D011596:Psychomotor Disorders; D013577:Syndrome; D014314:Trisomy