Elsevier

European Journal of Medical Genetics

Volume 52, Issue 1, January–February 2009, Pages 71-74
European Journal of Medical Genetics

Chromosomal imbalance letter
5.9 Mb microdeletion in chromosome band 17q22–q23.2 associated with tracheo-esophageal fistula and conductive hearing loss

https://doi.org/10.1016/j.ejmg.2008.09.006Get rights and content

Abstract

Only eight cases involving deletions of chromosome 17 in the region q22–q24 have been reported previously. We describe an additional case, a 7-year-old boy with profound mental retardation, severe microcephaly, facial dysmorphism, symphalangism, contractures of large joints, hyperopia, strabismus, bilateral conductive hearing loss, genital abnormality, psoriasis vulgaris and tracheo-esophageal fistula. Analysis with whole-genome SNP genotyping assay detected a 5.9 Mb deletion in chromosome band 17q22–q23.2 with breakpoints between 48,200,000–48,300,000 bp and 54,200,000–54,300,000 bp (according to NCBI 36). The aberration was confirmed by real-time quantitative PCR analysis. Haploinsufficiency of NOG gene has been implicated in the development of conductive hearing loss, skeletal anomalies including symphalangism, contractures of joints, and hyperopia in our patient and may also contribute to the development of tracheo-esophageal fistula and/or esophageal atresia.

Introduction

Interstitial deletions of the long arm of chromosome 17 are rare. To our knowledge, only eight cases have been reported involving deletions of chromosome 17 in the region q22–q24 [2], [7], [8], [10], [11], [12], [13], [14]. Common findings include microcephaly, characteristic facies, hand anomalies including symphalangism and proximal placement of the thumbs, growth retardation and moderate to severe developmental delay.

Here we report an additional case with deletion of chromosome 17 in a region of q22–q23.2 identified by high-density SNP genotyping array.

Section snippets

Case report

The patient was born by normal vaginal delivery at term. His birth weight was 3480 g and length 50 cm was normal. He had microcephaly with an occipitofrontal skull diameter of 33 cm (−2 SD). His umbilical cord was very short. Soon after birth a tracheo-esophageal fistula was diagnosed and corrected. He was the first child in this Estonian couple; the mother had two healthy daughters from a previous marriage. The family history was unremarkable.

He was first evaluated by a clinical geneticist at the

Discussion

Here we report an additional case of microdeletion of the long arm of chromosome 17. The data of previous published cases are summarized in Table 1.

The deletion in our patient involves the region 17q22–q23.2, where according to the Ensembl (http://www.ensembl.org) database more than 40 genes are located. Already Marsh et al. [10] suggested that locus for tracheo-esophageal fistula (TEF)/esophageal atresia (OA) may be located in the region 17q22–q23 and our findings support this hypothesis.

Acknowledgements

GARLA 6808 and GLOMR 7617 from Estonian Science Foundation supported this work. We are very thankful to Dr. O. Bartsch for FISH study. We also thank Dr. Michael Field and Ms. Anne Proos for helping with manuscript preparation.

References (15)

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