Low-prevalence mosaicism of chromosome 18q distal deletion identified by exome-based copy number profiling in a child with cerebral hypomyelination

Congenit Anom (Kyoto). 2020 May;60(3):94-96. doi: 10.1111/cga.12351. Epub 2019 Jul 29.

Authors

Tadashi Shiohama¹, Mitsuko Nakashima², Hajime Ikehara¹, Mitsuhiro Kato³, Hirotomo Saitsu²

Affiliations

¹ Department of Pediatrics, Graduated School of Medicine, Chiba University, Chiba, Japan.
² Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
³ Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.

PMID: 31328296
DOI: 10.1111/cga.12351

No abstract available

Publication types

Case Reports

MeSH terms

Amino Acid Transport Systems, Acidic / deficiency*
Amino Acid Transport Systems, Acidic / genetics
Antiporters / deficiency*
Antiporters / genetics
Child
Chromosome Deletion*
Chromosomes, Human, Pair 18 / genetics*
DNA Copy Number Variations*
Exome / genetics*
Exome Sequencing
Female
Hereditary Central Nervous System Demyelinating Diseases / genetics
Hereditary Central Nervous System Demyelinating Diseases / pathology*
Humans
Mitochondrial Diseases / genetics
Mitochondrial Diseases / pathology*
Mosaicism*
Prevalence
Psychomotor Disorders / genetics
Psychomotor Disorders / pathology*

Substances

Amino Acid Transport Systems, Acidic
Antiporters

Supplementary concepts

Hypomyelination, Global Cerebral

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