A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

作者：Poirsier Celine^*; Besseau Ayasse Justine; Schluth Bolard Caroline; Toutain Jerome; Missirian Chantal; Le Caignec Cedric; Bazin Anne; de Blois Marie Christine; Kuentz Paul; Catty Marie; Choiset Agnes; Plessis Ghislaine; Basinko Audrey; Letard Pascaline; Flori Elisabeth; Jimenez Melanie; Valduga Mylene; Landais Emilie; Lallaoui Hakima; Cartault Francois; Lespinasse James; Martin Coignard Dominique; Callier Patrick; Pebrel Richard Celine; Portnoi Marie France; Busa Tiffany

来源：European Journal of Human Genetics, 2016, 24(6): 844-851.

DOI：10.1038/ejhg.2015.219

Although 22q11.2 deletion syndrome (22q11.2DS) is the most recurrent human microdeletion syndrome associated with a highly variable phenotype, little is known about the condition's true incidence and the phenotype at diagnosis. We performed a multicenter, retrospective analysis of postnatally diagnosed patients recruited by members of the Association des Cytogeneticiens de Langue Francaise (the French-Speaking Cytogeneticists Association). Clinical and cytogenetic data on 749 cases diagnosed between 1995 and 2013 were collected by 31 French cytogenetics laboratories. The most frequent reasons for referral of postnatally diagnosed cases were a congenital heart defect (CHD, 48.6%), facial dysmorphism (49.7%) and developmental delay (40.7%). Since 2007 (the year in which array comparative genomic hybridization (aCGH) was introduced for the routine screening of patients with intellectual disability), almost all cases have been diagnosed using FISH (96.1%). Only 15 cases (all with an atypical phenotype) were diagnosed with aCGH; the deletion size ranged from 745 to 2904 kb. The deletion was inherited in 15.0% of cases and was of maternal origin in 85.5% of the latter. This is the largest yet documented cohort of patients with 22q11.2DS (the most commonly diagnosed microdeletion) from the same population. French cytogenetics laboratories diagnosed at least 108 affected patients (including fetuses) per year from among a national population of similar to 66 million. As observed for prenatal diagnoses, CHDs were the most frequently detected malformation in postnatal diagnoses. The most common CHD in postnatal diagnoses was an isolated septal defect.

• 出版日期2016-6