Duplication of the terminal band of the long arm of chromosome 7: a new case.
作者信息
Boccone L, Gasperini D, Pilloni G, Cao A, Nucaro A
机构信息
Dipartimento di Scienze Biomediche e Biotecnologie, Universita di Cagliari, Italy.
出版信息
Genet Couns. 2004;15(1):87-90.
PMID:15083705
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.
摘要
Zotero 插件