Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features

• This is the 11th case of ring chromosome 2 reported in the literature.
• Clinical and conventional cytogenetics are used as primary diagnostic tools.
• We compare and analyze other cases to see similarities and different approaches.

We report here a child with a ring chromosome 2 [r(2)] associated with failure to thrive, microcephaly and dysmorphic features. The chromosomal aberration was defined by chromosome microarray analysis, revealing two small deletions of 2p25.3 (139 kb) and 2q37.3 (147 kb).We show the clinical phenotype of the patient, using a conventional approach and the molecular cytogenetics of a male with a history of prenatal intrauterine growth restriction (IUGR), failure to thrive, microcephaly and dysmorphic facial features. The phenotype is very similar to that reported in other clinical cases with ring chromosome 2.