Prenatal diagnosis of three fetuses with small supernumerary marker chromosomes / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1344-1348, 2020.
Article
Dans Chinois
| WPRIM
| ID: wpr-879495
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Diagnostic prénatal
/
Translocation génétique
/
Hybridation fluorescente in situ
/
Polymorphisme de nucléotide simple
/
Duplication chromosomique
/
Foetus
Type d'étude:
Etude diagnostique
Limites du sujet:
Femelle
/
Humains
/
Mâle
/
Grossesse
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2020
Type:
Article
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