The Largest Germline Heterozygous Deletion Encompassing Potocki–Shaffer and WAGR Syndromes Loci to Date: A Case Report

Abstract

Potocki–Schaffer syndrome includes multiple exostoses, parietal foramina, and variable developmental delay/intellectual disability. It is associated with a heterozygous deletion of the 11p12p11.2 region. In some cases, the deletion extends to the WAGR locus (11p13p12). We describe here a 9-month-old girl harboring the largest germline heterozygous deletion characterized so far. Oligohydramnios and parietal foramina were noticed during pregnancy. No patient has been diagnosed before with concomitance of these two syndromes during the prenatal period. Cytogenetic diagnosis was anticipated on basis of clinical and radiological signs. Postnatal conventional karyotype confirmed an interstitial 11p deletion: 46,XX,del(11)(p11.2p15.1). Array-comparative genomic hybridization characterized a 29.6 Mb deletion. Our case illustrates the interest of high-resolution genomic approaches to correlate adequately clinical phenotypes with specific genes in suspected contiguous gene deletion syndromes.

Keywords

Potocki–Schaffer syndrome - WAGR syndrome - contiguous gene deletion - array-CGH - oligohydramnios

Statement of Ethics

This chapter is exempt from ethical committee approval as we report a case identified in a diagnostic process. The authors declare no commercial affiliations interests, or patent-licensing arrangements in the analysis, interpretation of data, writing of the report, and decision to submit the paper for publication that could be regarded as posing a conflict of interest. We discussed with the parents how this chapter could help for the diagnosis of Potocki–Schaffer and WAGR syndromes. They have given their written informed consent to publish the case of their daughter (including publication of images).

Author Contributions

All authors cared for the patient. G. D. wrote the first draft of the manuscript. L. .M and P.Ktributed to the final form of the manuscript.

Publication History

Received: 30 October 2020

Accepted: 06 January 2021

Article published online:
08 December 2021

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