We report on a child with a small supernumerary marker chromosome (sSMC) causing partial trisomy 6p. The child showed a phenotype consisting of neonatal craniosynostosis, microcephaly, and borderline developmental delay. By molecular techniques the sSMC has been shown to contain ∼16 Mb of genomic DNA from 6p21.1 to 6cen, being de novo and of maternal origin.
- Chromosome 6p
- Developmental delay
- Small supernumerary marker chromosome
ASJC Scopus subject areas