Received:October 01, 2018;   Published: October 11, 2018

DOI: 10.26717/BJSTR.2018.09.001876

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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.

Keywords : Monosomy, 7q36.1-qter, Microarray Analysis, Genotype-Phenotype Correlation, Prenatal Diagnosis, Hemivertebrae Deformity

Abbreviations : CMA: Chromosomal Microarray Analysis; FISH: Fluorescent In Situ Hybridization; CS: Congenital Scoliosis; HPE: Holoprosencephaly; SMMCI: Solitary Median Maxillary Central Incisor

Abstract | Introduction| Materials and Methods| Results| Discussion| Acknowledgement| Funding| References|