[Prenatal diagnosis of three fetuses with small supernumerary marker chromosomes].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(12): 1344-1348, 2020 Dec 10.
Article
em Zh
| MEDLINE
| ID: mdl-33306818
ABSTRACT
OBJECTIVE:
To explore the origin and mechanism of small supernumerary marker chromosomes (sSMC) in three fetuses.METHODS:
The three fetuses were predicted to have carried chromosomal abnormalities by non-invasive prenatal testing (NIPT). G-banding chromosomal karyotyping analysis were carried out on amniotic fluid samples of the fetuses and peripheral blood samples from their parents. Single nucleotide polymorphism array (SNP-array) was used to determine the origin, size and genetic effect of sSMCs.RESULTS:
In fetus 1, SNP array has detected two microduplications respectively at 4p16.3p15.2 (24.7 Mb) and 18p11.32q11.2 (20.5 Mb) which, as verified by fluorescence in situ hybridization (FISH), have derived from a balanced 46,XY,t(4;18)(p15.2q11.2) translocation carried by its father. Fetus 2 has carried a de novo microduplication of 15q11.2-q13.3 (9.7 Mb). The sequence of SMC in fetus 3 has derived from 21q11.2-q21.1 (8.3 Mb), which was inherited from its mother.CONCLUSION:
Both NIPT and SNP-array are highly accurate for the detection of sSMC. SNP-array can delineate the origin and size of abnormal chromosomes, which in turn can help with clarification of sSMC-related genotype-phenotype correlation and facilitate prenatal diagnosis and genetic counseling for the family.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Duplicação Cromossômica
Idioma:
Zh
Ano de publicação:
2020
Tipo de documento:
Article