Analysis of a fetus with unbalanced translocation derived from a balanced t(6;14) maternal translocation.
10.3760/cma.j.cn511392-20220302-00147
- Author:
Mengting ZHANG
1
,
2
;
Hai XIAO
;
Dong WU
;
Hongdan WANG
;
Yue GAO
;
Qian ZHANG
;
Fengyang WANG
;
Tao WANG
;
Shixiu LIAO
Author Information
1. Institute of Medical Genetics, Henan Provincial People's Hospital
2. Zhengzhou University People's Hospital, Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, Zhengzhou, Henan 450003, China.
- Publication Type:Journal Article
- MeSH:
Pregnancy;
Female;
Humans;
Comparative Genomic Hybridization;
DNA Copy Number Variations;
Translocation, Genetic;
Chromosome Aberrations;
Fetus;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2023;40(2):230-233
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic characteristics of a fetus with a high risk by maternal serum screening during the second trimester.
METHODS:Genetic counseling was provided to the pregnant woman on March 22, 2020 at Henan Provincial People's Hospital. G-banded chromosomal karyotyping and array comparative genomic hybridization (aCGH) were carried out on the amniotic fluid sample and peripheral blood samples from the couple.
RESULTS:The fetus and the pregnant woman were respectively found to have a 46,XX,der(6)t(6;14)(q27;q31.2) and 46,XX,t(6;14)(q27;q31.2) karyotype, whilst the husband was found to have a normal karyotype. aCGH analysis has identified a 6.64 Mb deletion at 6q26q27 and a 19.98 Mb duplication at 14q31.3q32.33 in the fetus, both of which were predicted to be pathogenic copy number variations. No copy number variation was found in the couple.
CONCLUSION:The unbalanced chromosome abnormalities in the fetus have probably derived from the balanced translocation carried by the pregnant woman. aCGH can help to determine the types of fetal chromosome abnormalities and site of chromosomal breakage, which may facilitate the prediction of fetal outcome and choice for subsequent pregnancies.
