Incomplete EEC syndrome in a patient with mosaic monosomy 21.
Chromosome anomalies in cases of ectrodactyly, ectodermal dysplasia and cleft of the lip and palate (EEC syndrome) have now been reported. We now report a child with the above syndrome and mosaic monosomy of chromosome 21.
D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002904:Chromosomes, Human, 21-22 and Y; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D008297:Male; D009030:Mosaicism; D013577:Syndrome; D014034:Toes / Q000002:abnormalities