title: Neural tube defects and atypical deletion on 22q11.2.
abstract: The 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion disorder. Most of the patients show the common 3 Mb deletion but proximal 1.5 Mb deletion and unusual deletions located outside the common deleted region, have been detected particularly with the advance of comparative cytogenomic microarray technologies. The individuals reported in the literature with unusual deletions involving the 22q11 region, showed milder facial phenotypes, decreased incidence of cardiac anomalies, and intellectual disability. We describe two sibs with an atypical 0.8 Mb microdeletion of chromosome 22q11 who both showed myelomeningocele and mild facial dysmorphisms. The association between neural tube defect and the clinical diagnosis of Di George anomaly/velocardiofacial syndrome is well documented in the literature, but not all cases had molecular studies to determine breakpoint regions. This report helps to narrow a potential critical region for neural tube defects associated with 22q11 deletions.
authors.affiliation: Center for Rare Diseases, Departments of Pediatrics, Catholic University, Rome, Italy; University of Utah, Department of Pediatrics, Division of Medical Genetics, Salt Lake City, Utah.
authors.forename: Chiara
authors.initials: C
authors.lastname: Leoni
authors.forename: David A
authors.initials: DA
authors.lastname: Stevenson
authors.forename: Katherine B
authors.initials: KB
authors.lastname: Geiersbach
authors.forename: Christian N
authors.initials: CN
authors.lastname: Paxton
authors.forename: Bryan L
authors.initials: BL
authors.lastname: Krock
authors.forename: Rong
authors.initials: R
authors.lastname: Mao
authors.forename: Alan F
authors.initials: AF
authors.lastname: Rope
mesh_terms: D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D059472:Exome; D019066:Facies; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D008591:Meningomyelocele / Q000175:diagnosis / Q000235:genetics; D009436:Neural Tube Defects / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D035781:Siblings
keywords: DiGeorge anomaly; FISH; del22q11; kousseff syndrome; myelomeningocele; neural tube defects; velocardiofacial syndrome