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

Autor:	Geoffroy Delplancq, Mohamed Abdelatif Boukebir, Daniel Amsallem, Laurent Thines, Virginie Rozé, Eric Dahlen, Lionel Van Maldergem, Paul Kuentz
Rok vydání:	2021
Předmět:	Comparative Genomic Hybridization Germ Cells WAGR Syndrome Pediatrics Perinatology and Child Health Humans Chromosome Disorders Neurology (clinical) General Medicine Chromosome Deletion Encephalocele
Zdroj:	Neuropediatrics. 53:274-278
ISSN:	1439-1899 0174-304X
DOI:	10.1055/s-0041-1740357
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::104053d27e222677a2d3e765f5e1e087 https://doi.org/10.1055/s-0041-1740357 Zobrazit plný text záznamu