Partial trisomy 22: A recognizable syndrome |
| |
| Authors: | Patricia Garlinger Scott A. McGeary Ellen Magenis |
| |
| Affiliation: | Crippled Children's Division, and Division of Medical Genetics, University of Oregon Health Sciences Center, Portland, Oregon, U.S.A. |
| |
| Abstract: | ![]()
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. |
| |
| Keywords: | |
|
|
