Deletion of chromosome 3q proximal region gives rise to a variable phenotype
- 1 March 1998
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 53 (3) , 220-222
- https://doi.org/10.1111/j.1399-0004.1998.tb02681.x
Abstract
We report two new cases with interstitial deletions of chromosome 3. Both had breakpoints established as q 12q21. Despite an apparently identical abnormal karyotype, their phenotypes were different although hypotonia, severe developmental delay, lack of speech, high arched palate and pointed chin were common features. One patient had corpus cajlosum agenesis (ACC), also present in two of the only four previously reported cases with a deletion in this region.Keywords
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