Phenotypic and genetic analysis of a pedigree with 4p16 microduplication and 8p23 microdeletion.
10.3760/cma.j.issn.1003-9406.2019.10.009
- VernacularTitle:一例4p16微重复合并8p23微缺失家系的临床表型及遗传学分析
- Author:
Chuang LI
1
,
2
;
Rui HOU
;
Caixia LIU
;
Ling Jesse LI
;
Yuan LYU
Author Information
1. Department of Gynecology & Obstetrics, Shengjing Hospital Affiliated to China Medical University, Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Shenyang, Liaoning 110004, China. hawk.lv@
2. com.
- Publication Type:Journal Article
- MeSH:
Chromosome Aberrations;
Chromosome Duplication;
Chromosomes, Human, Pair 4;
Chromosomes, Human, Pair 8;
Female;
Genetic Testing;
Humans;
In Situ Hybridization, Fluorescence;
Intellectual Disability;
genetics;
Karyotyping;
Pedigree;
Phenotype
- From:
Chinese Journal of Medical Genetics
2019;36(10):989-992
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the nature and origin of chromosomal copy number variants (CNVs) in a pedigree affected with mental retardation.
METHODS:Genomic CNVs of the proband were analyzed by next generation sequencing (NGS). Chromosomal karyotypes of the proband and his relatives were analyzed with high-resolution karyotyping and fluorescence in situ hybridization (FISH).
RESULTS:Clinical phenotypes of the proband and other patients from the pedigree included mental retardation and mild dysmorphism. The results of NGS revealed that the proband carried a 16.24 Mb microduplication at 4p16.3-15.32 and a 2.2 Mb microdeletion at 8p23.3-23.2. Other patients of the pedigree harbored the same variants, while those without the phenotypes did not harbor the variants. The results of high-resolution karyotyping and FISH revealed that the mother of the proband carried a reciprocal translocation between 4p and 8p, and her karyotype was 46,XX,t(4;8)(p16;p23). No karyotypic abnormality was detected in his father.
CONCLUSION:The abnormal phenotypes of this pedigree may be attributed to 4p microduplication in conjunct with 8p microdeletion derived from a maternal balanced translocation between 4p and 8p.
