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Trisomy 19p

Presentation

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]

Eyes

  • 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]

Prevention

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

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