Neural tube defects and the 13q deletion syndrome: Evidence for a critical region in 13q33-34

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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. Am. J. Med. Genet. 91:227–230, 2000.