نبذة مختصرة : International audience ; Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminaldeletion syndromes (incidence between 1/5000 and 1/10,000 live births in theAmerican population), due to a heterozygous deletion of part of the short arm ofchromosome 1. The 1p36DS is characterized by typical craniofacial features, develop-mental delay/intellectual disability, hypotonia, epilepsy, cardiomyopathy/congenitalheart defect, brain abnormalities, hearing loss, eyes/vision problem, and short stature.The aim of our study was to (1) evaluate the incidence of the 1p36DS in the Frenchpopulation compared to 22q11.2 deletion syndrome and trisomy 21; (2) review thepostnatal phenotype related to microarray data, compared to previously publish pre-natal data. Thanks to a collaboration with the ACLF (Association des Cytogénéticiensde Langue Française), we have collected data of 86 patients constituting, to the bestof our knowledge, the second-largest cohort of 1p36DS patients in the literature. Weestimated an average of at least 10 cases per year in France. 1p36DS seems to bemuch less frequent than 22q11.2 deletion syndrome and trisomy 21. Patients pre-sented mainly dysmorphism, microcephaly, developmental delay/intellectual disabil-ity, hypotonia, epilepsy, brain malformations, behavioral disorders, cardiomyopathy,or cardiovascular malformations and, pre and/or postnatal growth retardation. Car-diac abnormalities, brain malformations, and epilepsy were more frequent in distaldeletions, whereas microcephaly was more common in proximal deletions. Mappingand genotype–phenotype correlation allowed us to identify four critical regionsresponsible for intellectual disability. This study highlights some phenotypic variabil-ity, according to the deletion position, and helps to refine the phenotype of 1p36DS,allowing improved management and follow-up of patients
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