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Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

Autor: Sophie Brisset, Lucie Tosca, Gérard Tachdjian, Julien Saada, Virginie Benoit, Loïc Drévillon, Marie-Emmanuelle Naud, Jelena Martinovic, Corinne Metay

Publikováno v: Case Reports in Genetics
Case Reports in Genetics, Vol 2017 (2017)

Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with cra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd04c415e082e294b877d88a6ad965d4
http://europepmc.org/articles/PMC5390532

Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report.

Autor: Amélie BS; Genetic, Genomic and Procreation Department, Grenoble Alpes University Hospital, Grenoble, France., Julien T; Genetic, Genomic and Procreation Department, Grenoble Alpes University Hospital, Grenoble, France.; Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, University Grenoble Alpes, Grenoble, France., Kevin Y; LIRMM, CNRS, Reference Center for Congenital Anomalies, Clinical Genetic Unit, Montpellier University Hospital Center, University Montpellier, Montpellier, France., Marie-Emmanuelle N; Genetic Department, Eurofins Biomnis, Lyon, France., Jean-Marc C; Cerba Laboratory, Saint-Ouen-l'Aumône, France., Fanny DT; Pediatric Neurology Unit, Grenoble Alpes University Hospital, Grenoble, France., Marjolaine W; LIRMM, CNRS, Reference Center for Congenital Anomalies, Clinical Genetic Unit, Montpellier University Hospital Center, University Montpellier, Montpellier, France., Klaus D; Genetic, Genomic and Procreation Department, Grenoble Alpes University Hospital, Grenoble, France.; Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, University Grenoble Alpes, Grenoble, France., Véronique S; Genetic, Genomic and Procreation Department, Grenoble Alpes University Hospital, Grenoble, France.; Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, University Grenoble Alpes, Grenoble, France., Charles C; Genetic, Genomic and Procreation Department, Grenoble Alpes University Hospital, Grenoble, France.; Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, University Grenoble Alpes, Grenoble, France., Pauline LT; Genetic, Genomic and Procreation Department, Grenoble Alpes University Hospital, Grenoble, France.; Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, University Grenoble Alpes, Grenoble, France.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct 17, pp. e63891. Date of Electronic Publication: 2024 Oct 17.