title: Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.
abstract: Two patients with partial deletions of the long arm of chromosome 13, del(13)(13q21-q34) and del(13)(13q22-q33), respectively, multiple congenital anomalies including holoprosencephaly (HPE) and the Dandy-Walker malformation (DWM) are described. The occurrence of HPE and the DWM in both of these patients suggests that, in addition to ZIC2, which is important for normal development of the forebrain, there is at least one other dosage-sensitive gene in 13q22-q33 that plays an important role in brain development. The DWM is anatomically and developmentally distinct from HPE. The presence of a DWM in each of these two patients with partial deletions of the long arm of chromosome 13 suggests that haploinsufficiency at a locus in 13q22-q33 may cause this anomaly. These findings suggest that microdeletions in 13q22-q33 may be found in a proportion of patients with an apparently isolated DWM. Therefore, careful high-resolution cytogenetic analysis (550 band level or greater) of 13q22-q33 may be considered in these patients. Furthermore, future molecular studies of this region may reveal candidate gene loci for the DWM.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Room S434, One Baylor Plaza, Houston, TX 77030, USA.
authors.forename: W Michael
authors.initials: WM
authors.lastname: McCormack
authors.forename: Joseph J
authors.initials: JJ
authors.lastname: Shen
authors.forename: Stacey M
authors.initials: SM
authors.lastname: Curry
authors.forename: Sue Ann
authors.initials: SA
authors.lastname: Berend
authors.forename: Catherine
authors.initials: C
authors.lastname: Kashork
authors.forename: Halit
authors.initials: H
authors.lastname: Pinar
authors.forename: Lorraine
authors.initials: L
authors.lastname: Potocki
authors.forename: Bassem A
authors.initials: BA
authors.lastname: Bejjani
mesh_terms: D002871:Chromosome Banding; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D003616:Dandy-Walker Syndrome / Q000235:genetics* / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D016142:Holoprosencephaly / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male