Prenatal diagnosis and genetic analysis of a special case with complex structural rearrangements of chromosome 8.
10.3760/cma.j.cn511374-20220607-00392
- Author:
Yan ZENG
1
;
Tingting LUO
;
Feiyan QIAN
;
Dehua CHENG
;
Caiping CHEN
;
Jiaming FAN
;
Lifang ZHANG
;
Tao ZHANG
;
Hongmei LI
;
Zhiqiang WU
Author Information
1. Prenatal Diagnosis Center, Shaoxing Women and Children's Hospital, Shaoxing, Zhejiang 312000, China. 2560336019@qq.com.
- Publication Type:Journal Article
- MeSH:
Female;
Pregnancy;
Humans;
Chromosomes, Human, Pair 8/genetics*;
In Situ Hybridization, Fluorescence;
Gene Rearrangement;
Prenatal Diagnosis;
Centromere
- From:
Chinese Journal of Medical Genetics
2023;40(9):1181-1184
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To present on a prenatally diagnosed case with complex structural rearrangements of chromosome 8.
METHODS:Chromosome karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were carried out for a fetus with increased nuchal thickness.
RESULTS:The karyotype of the amniotic fluid sample showed extra materials on 8p. FISH revealed a centromeric signal at the terminal of 8p with absence of telomeric signal. CMA revealed partial deletion of 8p23.3 [(208049_2256732)×1], partial duplication of 8p23.3p23.2 [(2259519_3016818)×3], and partial duplication of 8q [8q11.1q12.2(45951900_60989083)×3].
CONCLUSION:The complex structural rearrangements of chromosome 8 in this case has differed from the commonly seen inv dup del(8p).
