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

Jeffrey Luo, Nancy Balkin, Julie F. Stewart, John F. Sarwark, Joel Charrow, Jeffrey S. Nye*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

44 Scopus citations


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: 859866]. Our analysis also suggests that one or more genes in 13q33-34 produces NTDs by haploinsufficiency. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)227-230
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number3
StatePublished - 2000


  • Chromosome 13 deletion
  • Clinical genetics
  • Developmental genetics
  • Neural tube defects
  • Spina bifida

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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