De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier.

摘要: Robertsonian translocations are usually ascertained through abnormal children, making proposed phenotypic effects of apparently balanced difficult to study in an unbiased way. From molecular genetic studies, though, some rearrangements now known be associated with abnormalities resulting from uniparental disomy. Molecular explanations for other cases which abnormality is seen a translocation carrier being sought. In the present paper, infant described who has retarded growth, developmental delay, gross muscular hypotonia, slender habitus, frontal bossing, micrognathia, hooked nose, abundant wispy hair, and blue sclerae. Cytogenetically, she appeared balanced, paternally derived 14;21 translocation. Analysis DNA polymorphisms showed that had no paternal allele at D14S13 locus (14q32). Study additional markers within 14q32 revealed her previously undescribed phenotype results interstitial microdeletion 14q32. Fluorescent situ hybridization was used show this occurred de novo on chromosome. These observations may reactivate old suspicions causal association between offspring; systematic search similar subcytogenetic families, there phenotypically children translocations, fruitful. The clinical data presented also define new contiguous gene syndrome due deletion.