Phenotypic and genetic analysis of a boy with inv dup del(8p).
10.3760/cma.j.cn511374-20200109-00020
- Author:
Bo ZHANG
1
;
Weili CUI
;
Zhenhua ZHANG
;
Jingjie LI
;
Nan LYU
;
Caiyun MA
;
Qing SHANG
Author Information
1. Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated of Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450003, China. sqing1965@163.com.
- Publication Type:Journal Article
- MeSH:
Child;
Chromosome Banding;
Cytogenetic Analysis;
Genetic Testing;
Humans;
In Situ Hybridization, Fluorescence;
Karyotyping;
Male
- From:
Chinese Journal of Medical Genetics
2021;38(6):581-584
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To delineate the nature and origin of a chromosomal aberration detected in a boy with mental retardation.
METHODS:The proband and his parents were subjected to routine G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis.
RESULTS:The karyotype of the proband was determined as 46, XX, add(8)(p23). No karyotypic abnormality was detected in either of his parents. SNP-array has identified a 34.9 Mb duplication at 8p23.1q11.1 and a 6.78 Mb microdeletion at 8p23.1pter in the proband. No copy number variation was detected in either parent.
CONCLUSION:The child was diagnosed with 8p inverted duplication deletion syndrome, which might be induced by non-allelic homologous recombination between olfactory genes in the 8p23.1 region.
