Fiche publication
Date publication
août 2022
Journal
Neuropediatrics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr KUENTZ Paul
Tous les auteurs :
Delplancq G, Boukebir MA, Amsallem D, Thines L, Rozé V, Dahlen E, Van Maldergem L, Kuentz P
Lien Pubmed
Résumé
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.
Mots clés
Chromosome Deletion, Chromosome Disorders, diagnosis, Comparative Genomic Hybridization, Encephalocele, Germ Cells, Humans, WAGR Syndrome, genetics
Référence
Neuropediatrics. 2022 08;53(4):274-278
