Phenotypic correlations in patients with ring chromosome 22
- 1 October 1977
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 12 (4) , 239-249
- https://doi.org/10.1111/j.1399-0004.1977.tb00933.x
Abstract
Two patients with a ring 22 chromosome, confirmed by Q-banding, are reported. The literature contains 19 patients with a ring G-group chromosome which has been shown by chromosome banding to be a ring 22. The most commonly reported features in affected patients include: retardation with disproportionate verbal delay, reduced head circumference, hypotonia, unsteady gait, large ears with abnormal configuration and epicanthic folds. The importance of these, as well as other, less often noted findings, is discussed in relation to a possible r(22) syndrome.This publication has 16 references indexed in Scilit:
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