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

✍ Scribed by Luo, Jeffrey; Balkin, Nancy; Stewart, Julie F.; Sarwark, John F.; Charrow, Joel; Nye, Jeffrey S.

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 41 KB
Volume: 91
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000320)91:3<227::aid-ajmg14>3.0.co;2-i

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✦ Synopsis

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.,

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