Prenatal diagnosis of a rare case with de novo partial 21q(21q22.1→ qter) trisomy syndrome and absent nasal bone.
10.3760/cma.j.cn511374-20200814-00601
- Author:
Jiayan CHEN
1
;
Nan SHENG
;
Meijiao CAI
;
Yunsheng GE
Author Information
1. Center for Prenatal Diagnosis, Xiamen Maternity and Child Health Care Hospital, Xiamen, Fujian 361003, China. gshee@163.com.
- Publication Type:Journal Article
- MeSH:
Female;
Humans;
In Situ Hybridization, Fluorescence;
Karyotyping;
Nasal Bone;
Pregnancy;
Prenatal Diagnosis;
Trisomy/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(8):783-786
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To carry out prenatal diagnosis for a fetus with absent nasal bone by using cytogenetic and molecular techniques.
METHODS:Chromosomal karyotyping, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) assays were applied for the diagnoses. Peripheral blood samples were also taken from the parents for chromosomal karyotyping and FISH analysis.
RESULTS:The fetus was found to have a 46,XX,add(21)(p11.2) karyotype, and SNP-array has revealed a 11.3 Mb duplication at 21q22.12q22.3 (hg19: 36 762 648-48 093 361), which was confirmed by FISH. Both parents were found to be normal by chromosomal karyotyping and FISH analysis. The fetus was ultimately found to have a karyotype of 46,XX,der(21)t(21;21)(p11.2;q22.1), resulting a de novo partial trisomy of 21q22.1.
CONCLUSION:Combined use of various techniques has enabled accurate prenatal diagnosis and genetic counseling for the fetus.
