Genetic analysis of a fetus with mosaicism of 13q inversion duplication.
10.3760/cma.j.cn511374-20201109-00786
- VernacularTitle:一例嵌合型13q倒位重复胎儿的遗传学分析
- Author:
Tingting LUO
1
;
Ming CHE
;
Dehua CHENG
;
Lifang ZHANG
;
Tao ZHANG
;
Yan ZENG
Author Information
1. Shaoxing Maternal and Child Health Care Hospital, Shaoxing, Zhejiang 312000, China. 286558459@qq.com.
- Publication Type:Journal Article
- MeSH:
Amniocentesis;
Chromosome Inversion/genetics*;
Comparative Genomic Hybridization;
Female;
Fetus;
Humans;
In Situ Hybridization, Fluorescence;
Male;
Mosaicism;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2022;39(1):76-80
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To report on a case of mosaicism 13q inversion duplication, analyze its mechanism, and discuss the correlation between its genotype and phenotype.
METHODS:Amniotic fluid and umbilical cord blood were collected at 23 and 32 weeks of gestation, respectively. Combined with G-banding chromosome karyotyping analysis, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) were used to confirm the result.
RESULTS:The karyotype of the fetus was determined as 47,XY,+inv dup(13)(q14.3q34)/46,XY. After careful counseling, the couple decided to continue with the pregnancy, and had given birth to a boy at 40 weeks' gestation. Except for a red plaque (hemangioma) on the nose bridge, no obvious abnormality (intelligence to be evaluated) was discovered.
CONCLUSION:To provide reference for clinical genetic counseling and risk assessment, the location and proportion of new centromere formation should be fully considered in the case of mosaicism 13q inversion duplication.
