Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: A new patient presenting with normal growth
Authors:
- 12 October 2007
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 143A (22) , 2696-2699
Abstract
Many patients with maternal uniparental disomy of chromosome 7 (UPD7) have been described, mainly with intrauterine and postnatal growth retardation or with Silver–Russell syndrome. In contrast, only three cases of paternal UPD7 have been reported, all associated with recessive disorders. Here, we report on the clinical and molecular data of the third patient with paternal UPD7 and cystic fibrosis. Pre‐ and postnatal growth were normal. These findings support the hypothesis that paternal isodisomy for human chromosome 7 may have no phenotypic effect on growth.Keywords
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