Prenatal diagnosis of a fetus with 1p36 deletion syndrome and 3p26.3p25.2 duplication
10.3760/cma.j.cn511374-20230814-00064
- VernacularTitle:母源性1p36缺失综合征和3p26.3p25.2重复1例胎儿的产前诊断
- Author:
Jingjing ZHAO
1
;
Jingzhen GAO
;
Xiangyu ZHAO
;
Lin LI
Author Information
1. 临沂市人民医院妇产科，临沂 276003
- Keywords:
Prenatal diagnosis;
1p36 deletion syndrome;
3p26.3p25.2 duplication syndrome;
Balanced translocation carrier;
Chromosomal microarray analysis
- From:
Chinese Journal of Medical Genetics
2024;41(5):617-621
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the characteristics of a fetus with chromosome 1p36 deletion syndrome and 3p26.3p25.2 duplication.Methods:A pregnant woman who had attended the Genetic Counseling Clinic of Linyi People′s Hospital on February 22, 2022 and her fetus were selected as the study subjects. Clinical data were collected. Chromosomal karyotyping, fluorescence in situ hybridization (FISH) and chromosomal microarray analysis (CMA) were carried out for the prenatal diagnosis. Result:Ultrasonography at 24th gestational week revealed that the fetus had ventricular septal defect, single umbilical artery, and slight widening of left lateral ventricle (12 mm). The woman was found to have a karyotype of 46, XX, t(1; 3)(p36.22; p25.2), and the result of FISH was t(1; 3)(3pter+, 1qter+ ; 1pter+, 3qter+ ). The fetus was found to have a karyotype of 46, X?, add(1)(p36), and CMA confirmed that it has a 9.0 Mb deletion at 1p36.33p36.22 and a 12.6 Mb duplication at 3p26.3p25.2. Combining the maternal karyotype, the molecular karyotype of the fetus was determined as 46, X?, der(1)t(1; 3)(p36.22; p25.2)mat.arr[hg19]1p36.33p36.22(849467_9882666)×1, 3p26.3p25.2(61892_12699607)×3, with the former known to be associated with 1p36 deletion syndrome.Conclusion:The fetus was diagnosed with 1p36 deletion syndrome, and its 1p36.33p36.22 deletion and 3p26.3p25.2 duplication had both derived from the balanced translocation carried by its mother.
