title: 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.
abstract: BACKGROUND
  Chromosome 13q deletion is associated with varying phenotypes, which seem to depend on the location of the deleted segment. Although various attempts have been made to link the 13q deletion intervals to distinct phenotypes, there is still no acknowledged consensus correlation between the monosomy of distinct 13q regions and specific clinical features.
  
  
  METHODS
  14 Italian patients carrying partial de novo 13q deletions were studied. Molecular-cytogenetic characterisation was carried out by means of array-comparative genomic hybridisation (array-CGH) or fluorescent in situ hybridisation (FISH).
  
  
  RESULTS
  Our 14 patients showed mental retardation ranging from profound-severe to moderate-mild: eight had central nervous system (CNS) anomalies, including neural tube defects (NTDs), six had eye abnormalities, nine had facial dysmorphisms and 10 had hand or feet anomalies. The size of the deleted regions varied from 4.2 to 75.7 Mb.
  
  
  CONCLUSIONS
  This study is the first systematic molecular characterisation of de novo 13q deletions, and offers a karyotype-phenotype correlation based on detailed clinical studies and molecular determinations of the deleted regions. Analyses confirm that patients lacking the 13q32 band are the most seriously affected, and critical intervals have been preliminarily assigned for CNS malformations. Dose-sensitive genes proximal to q33.2 may be involved in NTDs. The minimal deletion interval associated with the Dandy-Walker malformation (DWM) was narrowed to the 13q32.2-33.2 region, in which the ZIC2 and ZIC5 genes proposed as underlying various CNS malformations are mapped.
authors.forename: Lucia
authors.initials: L
authors.lastname: Ballarati
authors.forename: Elena
authors.initials: E
authors.lastname: Rossi
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Bonati
authors.forename: Stefania
authors.initials: S
authors.lastname: Gimelli
authors.forename: Paola
authors.initials: P
authors.lastname: Maraschio
authors.forename: Palma
authors.initials: P
authors.lastname: Finelli
authors.forename: Sabrina
authors.initials: S
authors.lastname: Giglio
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Lapi
authors.forename: Maria Francesca
authors.initials: MF
authors.lastname: Bedeschi
authors.forename: Silvana
authors.initials: S
authors.lastname: Guerneri
authors.forename: Giulia
authors.initials: G
authors.lastname: Arrigo
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Patricelli
authors.forename: Teresa
authors.initials: T
authors.lastname: Mattina
authors.forename: Oriana
authors.initials: O
authors.lastname: Guzzardi
authors.forename: Vanna
authors.initials: V
authors.lastname: Pecile
authors.forename: Adalgisa
authors.initials: A
authors.lastname: Police
authors.forename: Gioacchino
authors.initials: G
authors.lastname: Scarano
authors.forename: Lidia
authors.initials: L
authors.lastname: Larizza
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.forename: Daniela
authors.initials: D
authors.lastname: Giardino
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D004268:DNA-Binding Proteins; D003616:Dandy-Walker Syndrome / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009687:Nuclear Proteins; D009693:Nucleic Acid Hybridization / Q000379:methods; D010641:Phenotype; D014157:Transcription Factors / Q000235:genetics
chemical_list: D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D014157:Transcription Factors; C491812:ZIC2 protein, human; C485965:ZIC5 protein, human