{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T08:33:08Z","timestamp":1740126788687,"version":"3.37.3"},"reference-count":18,"publisher":"Georg Thieme Verlag KG","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Potocki\u2013Schaffer 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.<\/jats:p>","DOI":"10.1055\/s-0041-1740357","type":"journal-article","created":{"date-parts":[[2021,12,8]],"date-time":"2021-12-08T23:52:45Z","timestamp":1639007565000},"page":"274-278","source":"Crossref","is-referenced-by-count":1,"title":["The Largest Germline Heterozygous Deletion Encompassing Potocki\u2013Shaffer and WAGR Syndromes Loci to Date: A Case Report"],"prefix":"10.1055","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9189-6847","authenticated-orcid":false,"given":"Geoffroy","family":"Delplancq","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine, Universit\u00e9 de Franche-Comt\u00e9, Besan\u00e7on, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed Abdelatif","family":"Boukebir","sequence":"additional","affiliation":[{"name":"Service de neurochirurgie, universit\u00e9 Bourgogne-Franche-Comt\u00e9, CHRU de Besan\u00e7on, Besan\u00e7on, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Amsallem","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie, CHU, Besan\u00e7on, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurent","family":"Thines","sequence":"additional","affiliation":[{"name":"Service de neurochirurgie, universit\u00e9 Bourgogne-Franche-Comt\u00e9, CHRU de Besan\u00e7on, Besan\u00e7on, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginie","family":"Roz\u00e9","sequence":"additional","affiliation":[{"name":"Oncobiologie G\u00e9n\u00e9tique Bioinformatique, PCBio, Centre Hospitalier Universitaire de Besan\u00e7on, Besan\u00e7on, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Dahlen","sequence":"additional","affiliation":[{"name":"Oncobiologie G\u00e9n\u00e9tique Bioinformatique, PCBio, Centre Hospitalier Universitaire de Besan\u00e7on, Besan\u00e7on, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lionel","family":"Van Maldergem","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine, Universit\u00e9 de Franche-Comt\u00e9, Besan\u00e7on, France"},{"name":"INSERM CIC1431, CHU, Besan\u00e7on, France"},{"name":"EA481 \u2018Neurosciences integratives et cognitives\u2019, Universit\u00e9 de Franche-Comt\u00e9, Besan\u00e7on, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2814-6303","authenticated-orcid":false,"given":"Paul","family":"Kuentz","sequence":"additional","affiliation":[{"name":"Oncobiologie G\u00e9n\u00e9tique Bioinformatique, PCBio, Centre Hospitalier 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