title: FISH-mapping of a 100-kb terminal 22q13 deletion.
abstract: Both cytogenetically visible and cryptic deletions of the terminal region of chromosome 22q are associated with a clinical phenotype including mental retardation, delay in expressive speech development, hypotonia, normal to accelerated growth and minor facial dysmorphic features. The genes responsible for the development of the phenotype have not yet been identified, but a distal localization is probable, since the cytogenetically visible and the cryptic deletions show a similar pattern of symptoms. We report a 33-year-old woman with a submicroscopic 22q13 deletion, mild mental retardation, speech delay, autistic symptoms and mild facial dysmorphic features. The deletion was mapped by FISH using cosmid probes from terminal 22q13, and the size of the deletion was estimated to be 100 kb. Three genes are affected by the deletion in this patient. ACR and RABL2B are deleted and proSAP2 is disrupted. This observation, together with recently published data, supports the notion that proSAP2 is the most important contributor to the 22q13 deletion phenotype.
authors.affiliation: Department of Molecular Medicine, CMM, L8:02, Clinical Genetics Unit, Karolinska Institutet at Karolinska Hospital, 171 76 Stockholm, Sweden. britt.marie.anderlid@cmm.ki.se
authors.forename: Britt-Marie
authors.initials: BM
authors.lastname: Anderlid
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Schoumans
authors.forename: Göran
authors.initials: G
authors.lastname: Annerén
authors.forename: Isabel
authors.initials: I
authors.lastname: Tapia-Paez
authors.forename: Jan
authors.initials: J
authors.lastname: Dumanski
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Blennow
authors.forename: Magnus
authors.initials: M
authors.lastname: Nordenskjöld
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D010641:Phenotype; D020161:Physical Chromosome Mapping