Prenatal diagnosis and phenotypic analysis of two fetuses harboring heterozygous deletions of SHOX gene
10.3760/cma.j.cn511374-20221102-00753
- VernacularTitle:SHOX基因杂合性缺失2例胎儿的产前诊断及表型分析
- Author:
Leilei GU
1
;
Wei LIU
;
Xiangyu ZHU
;
Jie LI
Author Information
1. 南京大学医学院附属鼓楼医院妇产医学中心/产前诊断中心，南京 210008
- Keywords:
Chromosomal microarray analysis;
Prenatal diagnosis;
SHOX gene
- From:
Chinese Journal of Medical Genetics
2024;41(2):205-208
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical manifestations of two fetuses harboring heterozygous deletions of the SHOX gene. Methods:Two pregnant women who had presented at the Prenatal Diagnosis Center of Nanjing Drum Tower Hospital respectively on June 24, 2022 and July 27, 2022 were selected as the study subjects. In case 1, prenatal ultrasonography had shown short femur and intrauterine growth retardation of the fetus. Case 2 had a history of spontaneous abortions due to structural chromosomal aberrations. Fetus 1 had undergone a test for the FGFR3 gene, and both fetuses were subjected to single nucleotide polymorphism-based microarray (SNP array) analysis. Results:Affter excluding the influence of FGFR3 gene Fetus 1 was found to harbor a heterozygous 883 kb deletion at Xpter or Ypter, whilst fetus 2 was found to harbor a 5.75 Mb deletion in the Xpter region. Both deletions have encompassed the SHOX gene. The origin of the deletion in fetus 1 was unknown, whilst that in fetus 2 was inherited from its mother. Fetus 1 has been delivered at term with a normal phenotype, and fetus 2 was not born yet. Conclusion:The intrauterine and postnatal phenotypes of fetuses may be predicted by combining the ultrasound finding, parental phenotype and results of CMA, variant, and the results can facilitate genetic counseling and decision making over the pregnancy.
