Array CGH defined interstitial deletion on chromosome 14: a new case.

Dipartimento Materno Infantile, Università di Palermo, via Cardinale Rampolla 1, 90142, Palermo, Italy.
European Journal of Pediatrics (Impact Factor: 1.98). 07/2010; 169(7):845-51. DOI: 10.1007/s00431-009-1128-4
Source: PubMed

ABSTRACT Interstitial deletions of the long arm of chromosome 14 are relatively rare. We report a 8.5-year-old girl with dysmorphic facial features and mental retardation associated with a de novo interstitial deletion of chromosome 14. The comparison between our patient and all published patients is reviewed. The genetic investigations have allowed us to define the critical chromosomal region and to start an accurate follow-up.

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