An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations

Molecular syndromology

Paolo Guanciali-Franchi¹ 

关键词: Array CGH;    Chromosome 8;    Interstitial deletion;   

DOI  :  10.1159/000452967

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

A prenatal case of a de novo interstitial deletion distal to 8q24 was reported. Ultrasound examination and postmortem evaluation demonstrated no apparent phenotypic alterations. Array CGH showed an 11.4-Mb loss in chromosome 8 ranging from 8q24.13 to 8q24.23. This case partially overlaps the 2 cases previously described in the literature.

【 授权许可】

CC BY