Lip pits and deletion 1q32----41.
A patient with an interstitial deletion of chromosome 1q[del(1q32----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 chromosome 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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D005260:Female; D006801:Humans; D008046:Lip / Q000002:abnormalities*