title: Neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34.
abstract: Neural tube defects (NTD) are common findings in the 13q deletion syndrome, but the relationship between the 13q- syndrome and NTDs is poorly understood. We present a child with a 13q deletion and lumbosacral myelomeningocele. This was a boy with microcephaly, telecanthus, minor facial anomalies, and ambiguous genitalia. Cytogenetic and fluorescence in situ hybridization analysis showed a de novo 46,XY,del(13)(q33.2-->qter) with no visible translocation. By using microsatellite markers, the deletion breakpoint was mapped to a 350-kb region between D13S274 and D13S1311 and was paternal in origin. An analysis of 13q deletions with NTDs, including the present case, suggests that a deletion in 13q33-34 is sufficient to cause an NTD. The deletions associated with NTDs are distal to and nonoverlapping with the previously defined critical region in 13q32 for the major malformation syndrome [Brown et al., 1999: Am J Hum Genet 57: 859-866]. Our analysis also suggests that one or more genes in 13q33-34 produces NTDs by haploinsufficiency.
authors.affiliation: Department of Molecular Pharmacology and Biological Chemistry, Northwestern University, Chicago, Illinois 60611, USA.
authors.forename: J
authors.initials: J
authors.lastname: Luo
authors.forename: N
authors.initials: N
authors.lastname: Balkin
authors.forename: J F
authors.initials: JF
authors.lastname: Stewart
authors.forename: J F
authors.initials: JF
authors.lastname: Sarwark
authors.forename: J
authors.initials: J
authors.lastname: Charrow
authors.forename: J S
authors.initials: JS
authors.lastname: Nye
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D003456:Cryptorchidism / Q000235:genetics; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D007621:Karyotyping; D008161:Lumbosacral Region; D008297:Male; D008591:Meningomyelocele / Q000235:genetics; D009436:Neural Tube Defects / Q000235:genetics*; D001750:Urinary Bladder, Neurogenic / Q000235:genetics