Array CGH defined interstitial deletion on chromosome 14: a new case.
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.
Piccione
Maria
M
Dipartimento Materno Infantile, Università di Palermo, via Cardinale Rampolla 1, 90142, Palermo, Italy.
Antona
Vincenzo
V
Scavone
Valeria
V
Malacarne
Michela
M
Pierluigi
Mauro
M
Grasso
Marina
M
Corsello
Giovanni
G
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14; D055028:Comparative Genomic Hybridization; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D011596:Psychomotor Disorders / Q000235:genetics*