Partial trisomy 22: A recognizable syndrome
- 1 July 1977
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 12 (1), 9-16
- https://doi.org/10.1111/j.1399-0004.1977.tb00895.x
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 9 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.This publication has 15 references indexed in Scilit:
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