Publications by authors named "A Choiset"
The organization and dynamics of chromatin within the interphase nucleus as chromosome territories (CTs) and the relationship with transcriptional regulation are not fully understood. We studied a natural example of chromosomal disorganization: aneuploidy due to trisomies 13, 18 and 21. We hypothesized that the presence of an extra copy of one chromosome alters the CT distribution, which perturbs transcriptional activity.
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- The study investigated 22q11.2 deletion syndrome (22q11.2DS), a common microdeletion syndrome, focusing on its incidence and symptoms in patients diagnosed after birth across multiple French cytogenetic centers from 1995 to 2013.
- A total of 749 patients were analyzed, with major reasons for referral including congenital heart defects (48.6%), facial abnormalities (49.7%), and developmental delays (40.7%).
- Most cases were diagnosed using FISH technology (96.1%), with over 108 new cases detected annually in France, highlighting congenital heart defects, especially septal defects, as the primary postnatal malformation.
Background: Pregnancy-associated placental protein-A (PAPP-A) is a metalloprotease which circulates as an hetero-tetramer in maternal blood. Its maternal serum concentration in fetal trisomy 21 is decreased during the first trimester, so that PAPP-A is a useful screening biomarker. However, the regulation of PAPP-A placental secretion is unclear.
View Article and Find Full Text PDFObjectives: The aim of this study was to evaluate the relative risk of identifying fetal chromosomal anomalies after finding ultrasonographic (US) abnormalities in a high-risk population who underwent amniocentesis.
Methods: A retrospective review of a cohort of patients with single pregnancies who underwent genetic amniocentesis was undertaken. Univariate and multivariate analysis were used to determine the best correlations between US findings and chromosomal abnormalities.