Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome. [pubmed.ncbi.nlm.nih.gov]

This case under discussion provides evidence that a recognisable phenotype is apparently not always present when a small terminal duplication of the chromasome 19 short arm is present. [jmg.bmj.com]

At present, only 12 cases with this genetic condition have been reported in the literature. However, the size of the trisomic fragment is heterogeneous and thus, the clinical spectrum is variable. [karger.figshare.com]

• Small Palpebral Fissures

  [(Am J Hum Genet 1980: 32:64A] is similar to our case with respect to IUGR, small palpebral fissures, and ear anomalies. Similar articles Partial 3q trisomy due to an unbalanced 3/10 translocation. Blumberg B, Moore R, Mohandas T. Blumberg B, et al. [pubmed.ncbi.nlm.nih.gov]

In: McCormack MK (ed) Prevention of mental retardation and other developmental disabilities. [link.springer.com]