Identification of Microdeletion of 7q36.1-qter in Fetal Hemivertebrae with Scoliosis
Journal Title: Biomedical Journal of Scientific & Technical Research (BJSTR) - Year 2018, Vol 9, Issue 5
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. Vertebral malformations that result in CS may be linked with genetic syndromes such as Alagille syndrome, spondylocostal dysostosis, and Jarcho-Levin syndrome [2]. However, until now, the etiology of congenital scoliosis remained largely unknown [1]. In our case, we detected a 6.42Mb pure deletion in 7q36.1- qter (Chr7:150,915,999- qter) using chromosomal microarray analysis (CMA) in uncultured amniocytes derived from the mother of fetus with hemivertebrae and scoliosis. Several OMIM genes, including KCNH2(152427), NOS3(163729), PRKAG2(602743), DPP6(126141), PAXIP1(608254), EN2(131310), NCAPG2(54892), RHEB(601293), SHH(600725) located in this genomic region. Indeed hemivertebrae has rarely been reported in patients carrying pure 7q36.1-qter microdeletion, especially the prenatal diagnosis.So our study identified and described an important relationship between fetal hemivertebrae with scoliosis and 7q36.1-qter microdeletion. Clinic Data: A 29-year-old primiparous woman at 22 weeks of gestation was referred to the prenatal diagnosis clinic for genetic consultation because of fetal congenital scoliosis, such as fetal spinal segmental T10 - T12 to the right angle of bent into a triangle, stenosis. Spine coronary section showed that the right period of T10 - T12 thoracic vertebral ossification center was absent ,which was detected by gestation prenatal ultrasound at 22 weeks. Her husband was 30 years old and this couple was non-consanguineous without family history of congenital malformations on either side. This pregnant woman at 12 weeks repeatedly appeared a small amount of vaginal bleeding and experienced long-term tocolytic treatment. Amniocentesis was performed at 24 weeks of gestation. Because of the severe malformations of the hemivertebrae deformity, abortion was suggested. The pregnancy was subsequently terminated with a female fetus visually normal. Organ malformations could not be examined as the parents did not consent to a fetal autopsy. All data was collected with the informed consent of the patients. Cytogenetic Analysis: With informed consent, amniocytes (15ml) was collected by amniocentesis, and the sample was subjected to amniocyte culture according to a standard cytogenetic protocol. Meanwhile, 5ml of peripheral blood was collected from each parent. The blood samples were subjected to lymphocyte culture according to the instructions of the standard blood cytogenetic protocol. Finally, the cultured amniocytes and lymphocytes were assayed with conventional cytogenetic analysis using Giemsa-banding methods with a resolution of 550 bands. We also carried out FISH using the chromosome 7qer probe and LSI 7q11.2 probe (Vysis, USA) to exclude low-level mosaicism (600 nucleus have been analyzed), according to the manufacturer's instructions.
Authors and Affiliations
Yingjun Xie, Wei Jian, Jingsi Chen, Dunjin Chen, Xiaofang Sun
Keywords
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- EP ID EP586903
- DOI 10.26717/BJSTR.2018.09.001876
- Views 171
- Downloads 0
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