Trisomy-18 mosaicism with features of Russel-Silver syndrome.
A child is described who presented at 16 months with developmental delay and clinical features of the Russell-Silver syndrome.  Chromosome analysis revealed trisomy-18 mosaicism.  Only one other similar case has been reported in the literature.  It is recommended that chromosomal studies continue to be included in the clinical investigation of children with Russell-Silver syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D003394:Craniofacial Dysostosis / Q000235:genetics*; D003878:Dermatoglyphics; D004392:Dwarfism / Q000151:congenital* / Q000235:genetics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D007806:Language Disorders / Q000209:etiology; D008297:Male; D009069:Movement Disorders / Q000209:etiology; D013577:Syndrome; D014314:Trisomy