Lip pits and deletion 1q32 → 41
- 1 February 1987
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 26 (2) , 437-443
- https://doi.org/10.1002/ajmg.1320260223
Abstract
A patient with an interstitial deletion of chromosome lq[del( 1q327 → 41)] was found to have, among other anomalies, congenital lower‐lip pits. Lip pits are rare and are found mainly in association with the van der Woude syndrome and the popliteal pterygium syndrome; we cannot find a report of their association with a chromo‐some anomaly. To our knowledge, interstitial deletion of the segment 1q32 → 41 has not been reported. This observation raises the possibility that the van der Woude syndrome may be due to a submicroscopic deletion of chromosome 1q.Keywords
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