Duplication of the terminal band of the long arm of chromosome 7: a new case.
We report on a new case of de novo duplication of the terminal band of chromosome 7, 46, XX dup(7) (q36 > qter), defined by fluorescence in situ hybridization (FISH), which cause a recognizable phenotype consisting of macrocephaly, prominent frontal bossing, slight developmental delay.
Boccone
L
L
Dipartimento di Scienze Biomediche e Biotecnologie, Universita di Cagliari, Italy.
Gasperini
D
D
Pilloni
G
G
Cao
A
A
Nucaro
A
A
D002648:Child; D002871:Chromosome Banding / Q000379:methods*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics; D005260:Female; D020440:Gene Duplication; D006801:Humans; D010641:Phenotype; D012886:Skull / Q000002:abnormalities