6533b7d6fe1ef96bd1267100

RESEARCH PRODUCT

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

Giovanni CorselloMauro PierluigiVincenzo AntonaMichela MalacarneMaria PiccioneMarina GrassoValeria Scavone

subject

BiologyLong armSettore MED/38 - Pediatria Generale E SpecialisticaIntellectual DisabilitymedicineHumansAbnormalities MultipleDysmorphic facial featuresChildIn Situ Hybridization FluorescenceOligonucleotide Array Sequence AnalysisChromosomes Human Pair 14GeneticsComparative Genomic HybridizationPsychomotor retardationChromosomeFacePediatrics Perinatology and Child HealthChromosomal regionFish <Actinopterygii>FemaleChromosome 14 interstitial deletion . Psychomotor retardation . FISH . Array CGHChromosome DeletionPsychomotor Disordersmedicine.symptomPsychomotor disorderComparative genomic hybridization

description

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.

yearjournalcountryeditionlanguage
2009-10-15European Journal of Pediatrics
https://doi.org/10.1007/s00431-009-1128-4