title: Atypical presentations of 22q11.2 deletion syndrome: explaining the genetic defects and genome architecture.
abstract: 22q11.2 deletion syndrome, the most common microdeletion syndrome, exhibits a broad range of phenotypes, implying a cumbersome diagnosis due to atypical or paucisymptomatic presentations. We present two atypical cases of 22q11.2 deletion syndrome and suggest a preferential occurrence of the breakpoints in regions poor in repetitive elements of SINE/Alu family.
authors.affiliation: Medical Genetics Laboratory, National Institute of Pathology, Bucharest, Romania.
authors.forename: Andreea Cristina
authors.initials: AC
authors.lastname: Tuţulan-Cuniţă
authors.forename: Magdalena
authors.initials: M
authors.lastname: Budişteanu
authors.forename: Sorina Mihaela
authors.initials: SM
authors.lastname: Papuc
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Dupont
authors.forename: Dominique
authors.initials: D
authors.lastname: Blancho
authors.forename: Aziza
authors.initials: A
authors.lastname: Lebbar
authors.forename: Géraldine
authors.initials: G
authors.lastname: Viot
authors.forename: Agripina
authors.initials: A
authors.lastname: Lungeanu
authors.forename: Aurora
authors.initials: A
authors.lastname: Arghir
mesh_terms: D000293:Adolescent; D000328:Adult; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D055028:Comparative Genomic Hybridization / Q000379:methods*; D056915:DNA Copy Number Variations / Q000235:genetics; D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics