Journals on Biomedical Intervention - BJSTR Journal

Abstract

The 7q36 #microdeletion has been identified in patients with variant #phenotypes including sacral agenesis, #holoprosencephaly and intellectual disability. Here we describe a case of fetus with hemivertebrae and scoliosis and detected a 6.42 Mb pure microdeletion at 7q36.1-qter by chromosomal microarray analysis (CMA) that was not determined by traditional karyotyping. This microdeletion was confirmed by Fluorescent in situ hybridization (FISH) assay. Accurate breakpoints of the deletion in this case were used to establish correlations between #microdeletion at 7q36.1-q36.3 and the accompanied phenotypes, hemivertebrae deformity, which is rarely found in monosomy 7q36.1-qter. Our study identified and described an important relationship between fetal #hemivertebrae with scoliosis and 7q36.1-qter microdeletion overlap with MNXI and SHH.Congenital scoliosis (CS), a lateral curvature of the spine resulted from vertebral defects leading to a failure of vertebral formation and vertebral segmentation, occurs in about 1 per 1,000 live births, might be caused by variant factors such as environmental changes, genetic variations or both [1]. The major forms of vertebral defects include block vertebrae, hemivertebrae, butterfly and wedged vertebra, and unsegmented bars. Hemivertebrae usually represents an extra #vertebral segment which is due to complete failure of vertebral formation and is the most common cause of CS. 

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Identification of Microdeletion of 7q36.1-qter in Fetal Hemivertebrae with Scoliosis by Xiaofang Sun in BJSTR

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