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

Giovanni Corsello, Maria Piccione, Marina Grasso, Michela Malacarne, Mauro Pierluigi

Risultato della ricerca: Articlepeer review

7 Citazioni (Scopus)

Abstract

Interstitial deletions of the long arm of chromosome14 are relatively rare. We report a 8.5-year-old girlwith dysmorphic facial features and mental retardationassociated with a de novo interstitial deletion of chromosome14. The comparison between our patient and allpublished patients is reviewed. The genetic investigationshave allowed us to define the critical chromosomal regionand to start an accurate follow-up
Lingua originaleEnglish
pagine (da-a)845-851
Numero di pagine7
RivistaEuropean Journal of Pediatrics
Volume169
Stato di pubblicazionePublished - 2010

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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