A5068035790- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Chromatin Remodeling and Cancer
- Hedgehog Signaling Pathway Studies
- Prenatal Screening and Diagnostics
- Neuroblastoma Research and Treatments
- Neuroendocrine Tumor Research Advances
- Tumors and Oncological Cases
- Glycosylation and Glycoproteins Research
- Wnt/β-catenin signaling in development and cancer
- Congenital Ear and Nasal Anomalies
Hôpital Antoine-Béclère
2018-2021
Université Paris-Saclay
2021
Université Paris Cité
2021
Assistance Publique – Hôpitaux de Paris
2017-2021
Hôpital Cochin
2021
Hôpitaux Universitaires Paris-Ouest
2017
Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis chromosomal microarray in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with craniofacial talipes equinovarus, and syndactyly associated de novo 2.5 Mb 17q24.1q24.2 deletion. Among the deleted genes, KPNA2 PSMD12 are discussed for correlation fetal phenotype. This is first case of prenatal diagnosis
Abstract Background Terminal deletions of the long arm chromosome 7 are well known and frequently associated with syndromic holoprosencephaly due to involvement SHH (aliases HHG1 , SMMCI TPT TPTPS MCOPCB5 ) gene region. However, interstitial including CNTNAP2 Caspr2 KIAA0868 NRXN4 excluding region less common. Methods We report clinical molecular characterization pure 7q35 7q35q36.1 deletion in two unrelated patients as detected by oligonucleotide‐based array‐CGH analysis. Results The common...
Abstract Context Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the tumor suppressor gene MEN1. The uncertainty of pathogenicity MEN1 variants complexifies selection patients likely to benefit from specific care. Objective MEN1-mutated should be offered tailored screening and genetic counseling. We present a patient with hyperparathyroidism for whom analysis identified variant uncertain significance (NM_130799.2): c.654G > T...