7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case

Molecular syndromology

Vassilis Paspaliaris¹ 

关键词: Array CGH;    Deletion 7q;    Duplication 12q;    Holoprosencephaly;   

DOI  :  10.1159/000481972

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

Holoprosencephaly (HPE) spectrum disorder is the most common congenital malformation of the human brain with absence of or incomplete midline cleavage. Its cause is heterogenic, making genetic counseling a challenge. In this case report, a pregnancy affected by alobar HPE is described. Using aCGH, an 8.9-Mb deletion at 7q36.1q36.3 together with a 4.9-Mb duplication at 12q24.32q24.33 is assumed to be the possible reason for this alobar HPE case. It is discussed that disruption of key elements of the developing brain, taking environmental factors into account, contributes to the HPE spectrum. The use of aCGH for invasive prenatal testing is starting to become the standard technique, providing accurate information about the cause of congenital diseases for couples receiving genetic counseling.

【 授权许可】

CC BY