Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.

Background: The 15q11-q13 region contains many low copy repeats and is well known for its genomic instability. Several syndromes are associated with genomic imbalance or copy-number-neutral uniparental disomy. We report on two patients: Patient 1 is a boy with developmental delay and autism; and Patient 2 is a girl with developmental delay, hypotonia and dysmorphism.

De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus.

Background: Van der Woude syndrome is the most common among syndromes which include cleft lip and/or cleft palate as one of the presentations. It is usually caused by mutations in the interferon regulatory factor 6 (IRF6) gene.

Case Presentation: We previously reported on a patient with suspected deletion of the IRF6 gene.