Clinical and genetic features of ring chromosome 13 syndrome: an analysis of one case.
- Author:
Mei-Rong FAN
1
;
Gui-Jie WANG
;
Xin-You YU
Author Information
1. Department of Medical Experimental Center, General Hospital of Ningxia Medical University, Yinchuan, Ningxia 750004, China. yxy_nxmc@163.com.
- Publication Type:Case Reports
- MeSH:
Chromosome Deletion;
Chromosomes, Human, Pair 13;
genetics;
Comparative Genomic Hybridization;
Female;
Humans;
Infant;
Phenotype;
Ring Chromosomes;
Trisomy;
genetics
- From:
Chinese Journal of Contemporary Pediatrics
2018;20(6):485-489
- CountryChina
- Language:Chinese
-
Abstract:
A girl aged 5 months was admitted due to developmental delay. Physical examination showed delayed physical development, unusual facies (microcephalus, hypertelorism, low-set ears, wide nasal bridge, and short philtrum), and an absence of the labium minus at one side. The peripheral blood karyotype was 46,XX,r(13)(p11q33)[82]/45,XX,-13[10]/46,XX,r(13;13)(p11q33;p11q33)[8], and array-based comparative genomic hybridization showed an 87.5 Mb duplication in 13q11q33.2 region and an 8.2 Mb deletion in 13q33.2q34 region. Fluorescence in situ hybridization showed terminal depletion of the long arm of the ring chromosome 13. The girl was diagnosed with ring 13 syndrome. This syndrome has various clinical phenotypes and is closely associated with the amount and site of the loss of genetic material in chromosomal band and different rates of chimerism.
