| Literature DB >> 15083705 |
L Boccone1, D Gasperini, G Pilloni, A Cao, A Nucaro.
Abstract
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.Entities:
Mesh：
Year: 2004 PMID： 15083705
Source DB: PubMed Journal: Genet Couns ISSN： 1015-8146