Clinical and molecular genetic analysis of a pediatric patient with Lowe syndrome.
10.3760/cma.j.issn.1003-9406.2019.06.021
- Author:
Yongling ZHANG
1
;
Ru LI
;
Xiangyi JING
;
Xuewei TANG
;
Fucheng LI
;
Cao LIAO
Author Information
1. Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong 510623, China. Email: canliao6008@163.com.
- Publication Type:Case Reports
- MeSH:
Child;
Chromosome Aberrations;
DNA Copy Number Variations;
Humans;
Microarray Analysis;
Oculocerebrorenal Syndrome
- From:
Chinese Journal of Medical Genetics
2019;36(6):613-615
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology for a child with ocular dysplasia.
METHODS:Clinical examination was carried out. Medical history of the child was collected. Genomic DNA was extracted from peripheral blood samples. Chromosomal microarray analysis (CMA) was used to detect potential genomic copy number variations.
RESULTS:Ultrasonography revealed cataracts in both eyes of the child. MRI showed increased extracranial space, supratentorial ventricular dilatation, reduced white matter volume, increased T2WI signal and a large occipital cisterna. CMA showed that the patient carried a 249 kb microdeletion at Xq25q26.1 region, namely [hg19]arrXq25q26.1 (128 652 372 - 128 901 629)×0.
CONCLUSION:The child was diagnosed with Lowe syndrome, for which the 249 kb microdeletion at Xq25q26.1 is probably accountable.
