Open AccessEarly-onset ophthalmoplegia, cervical dyskinesia, and lower extremity weakness due to partial deletion of chromosome 16: A case report
Author(s) -
Min Xu,
Jiao Jiang,
YaLing He,
Weiyue Gu,
Bo Jin
Publication year - 2022
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v10.i26.9332
Subject(s) - exome sequencing , medicine , copy number variation , genetics , compound heterozygosity , dyskinesia , mitochondrial dna , chronic progressive external ophthalmoplegia , phenotype , biology , pathology , gene , mitochondrial myopathy , genome , disease , parkinson's disease
We explored the genotype-phenotype correlation of the novel deletion 16p13.2p12.3 in an 8-year-old child with progressive total ophthalmoplegia, cervical dyskinesia, and lower limb weakness by comparing the patient's clinical features with previously reported data on adjacent copy number variation (CNV) regions.