Publications by authors named "L Taine"
Article Synopsis
- Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder marked by distinct facial features, broad thumbs, and intellectual disability, primarily caused by mutations in the CREBBP and EP300 genes.
- The study reports nine cases of fetal RSTS, diagnosed through autopsy after prenatal abnormalities were found, including a large gallbladder and brain malformations.
- All cases revealed similar CREBBP gene anomalies to those observed in typical RSTS, suggesting that better awareness of fetal signs could help with earlier diagnoses and genetic counseling during pregnancy.
Obesity is a common but highly, clinically, and genetically heterogeneous disease. Deletion of the terminal region of the short arm of chromosome 2 is rare and has been reported in about 13 patients in the literature often associated with a Prader-Willi-like phenotype. We report on five unrelated patients with 2p25 deletion of paternal origin presenting with early-onset obesity, hyperphagia, intellectual deficiency, and behavioural difficulties.
View Article and Find Full Text PDFThe 2q37 locus is one of the most commonly deleted subtelomeric regions. Such a deletion has been identified in >100 patients by telomeric fluorescence in situ hybridization (FISH) analysis and, less frequently, by array-based comparative genomic hybridization (array-CGH). A recognizable '2q37-deletion syndrome' or Albright's hereditary osteodystrophy-like syndrome has been previously described.
View Article and Find Full Text PDFMacrosomia, obesity, macrocephaly, and ocular abnormalities syndrome (MOMO syndrome) has been reported in only four patients to date. In these sporadic cases, no chromosomal or molecular abnormality has been identified thus far. Here, we report on the clinical, cytogenetic, and molecular findings in a child of healthy consanguineous parents suffering from MOMO syndrome.
View Article and Find Full Text PDFObjective: To assess the extent to which couples who could benefit from fetal karyotyping during the first or second trimester would agree to delay the examination until the third trimester.
Methods: In this prospective monocentric study, the same physician suggested to some couples to delay fetal karyotyping until the third trimester.
Results: 458 couples participated in this study.