Résumé
A boy aged 4 years and 2 months was found to have delayed language and motor development, instability of gait, poor eye contact, stereotyped behavior, and seizure at the age of 3 years. Physical examination showed special facial features, including plagiocephaly, blepharoptosis, wide nasal bridge, down-turned mouth corners at both sides, and low-set ears. There were only two knuckles at the little finger of the left hand. The anteroposterior and lateral films of the spine showed scoliosis; echocardiography showed ventricular septal defect; the Gesell Developmental Scale showed delayed language development and moderate intellectual disability; there were no abnormalities in the karyotype; genome-wide SNP arrays found a duplication in 12q24.21 region with a size of 1.03 Mb in chromosome 12, while this was not seen in his parents. The boy was diagnosed with MED13L syndrome. Point mutation, deletion, and duplication in the MED13L gene can lead to MED13L syndrome. The patients with different genotypes may have different phenotypes. Genome-wide SNP arrays may help with the diagnosis of this disease.
Sujets)
Enfant d'âge préscolaire , Humains , Mâle , Délétion de segment de chromosome , Variations de nombre de copies de segment d'ADN , Déficience intellectuelle , Génétique , Complexe médiateur , Génétique , Phénotype , Polymorphisme de nucléotide simple , SyndromeRésumé
Percutaneous coronary intervention has been the main effective method for coronary heart disease recently, but the post-operative complications became the main factors to limit its curative effect. Considering the understanding on traditional Chinese medicine (TCM) syndromes of post-interventional therapy and the advance of pharmaceutical research we suggest that evolution law of TCM syndrome types should be hold intensively and practical therapies and formulae should be established under the guidance of TCM basic theory.