title: A 2q24.3q31.1 microdeletion found in a patient with Filippi-like syndrome phenotype: a case report.
abstract: Filippi syndrome is characterized by developmental delay, growth failure, cryptorchidism, bilateral hand and foot syndactyly, and facial dysmorphism. The 2q24q31 contiguous deletion syndrome has similarly been associated with hand and foot anomalies, growth retardation, microcephaly, characteristic facies with a broad prominent nasal root and thin alae nasi, and intellectual disability. We present a patient with this deletion who has a Filippi-like phenotype, which may be the first causative cytogenetic result in this syndrome. This suggests the importance of array comparative genomic hybridization in evaluation of patients with Filippi syndrome, and suggests that the inheritance may not always be autosomal recessive.
authors.affiliation: Department of Medical Genetics, Alberta Children's Hospital, University of Calgary, Calgary, Alberta.
authors.forename: Joanna
authors.initials: J
authors.lastname: Lazier
authors.forename: Judy
authors.initials: J
authors.lastname: Chernos
authors.forename: R Brian
authors.initials: RB
authors.lastname: Lowry
mesh_terms: D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D019066:Facies; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics / Q000601:surgery; D006130:Growth Disorders / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics / Q000601:surgery; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics*; D010641:Phenotype; D013576:Syndactyly / Q000235:genetics*
keywords: 2q deletion; Filippi syndrome; chromosome deletion; comparative genomic hybridization; genes; growth disorders; hand abnormalities; homeobox; syndactyly