Partial trisomy 22: a recognizable syndrome.
A patient identified as being a partial trisomy 22 mosaic is presented. The presence of a translocation t(4;22) (pter;q12) is noted in the mother, sister and maternal aunt. Comparison is made with nine other reported cases of partial trisomy 22 confirmed by parental translocation. These suggest a definite syndrome, including mental retardation, congenital heart disease, skeletal anomalies, anti-mongoloid slant of the palpebral fissures, preauricular skin tags and low-set ears.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities; D002904:Chromosomes, Human, 21-22 and Y; D005145:Face / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D009030:Mosaicism; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy