deletion 12(q15-q21.2)
interstitial deletion 12(q15-q21.2)
Interstitial deletions of the long arm of chromosome 12 are rare rearrangements with only 15 cases reported in the literature (2008).
Synopsis
facial dysmorphism
developmental delay
ectodermal abnormalities
cardiac malformations
renal malformations
references
Schluth C, Gesny R, Borck G, Redon R, Abadie V, Kleinfinger P, Munnich A, Lyonnet S, Colleaux L. New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation. Am J Med Genet A. 2008 Jan 1;146(1):93-6.PMID: 18076123