Trisomy in the distal end of the long arm of chromosome 3. A condition clinically similar to the Cornelia de Lange syndrome.
A patient had a trisomy for the distal portion of the third chromosome. The major clinical features were failure to thrive, profound mental retardation, dysmorphic head shape, a short nose, anteverted nares, long eyelashes, synophrys, characteristic mouth, and short stature. The similarities between the clinical picture and the Cornelia de Lange syndrome are very striking.
D002675:Child, Preschool; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D009958:Orofaciodigital Syndromes / Q000235:genetics; D013577:Syndrome; D014314:Trisomy