The first report showing de novo partial 21q monosomy in an adult woman with occult primary ovarian insufficiency (POI)

Clin Chem Lab Med. 2019 Aug 27;57(9):e230-e233. doi: 10.1515/cclm-2018-1271.

Authors

Jian Zeng¹, Wujian Huang², Mingyan Huang¹, Zhihong Wang³

Affiliations

¹ Center for Molecular Diagnosis of Genetic Diseases, Dongfang Hospital, Xiamen University Medical College, Fuzhou, P.R. China.
² Center for Reproductive Medicine, Dongfang Hospital, Xiamen University Medical College, Fuzhou, P.R. China.
³ Center for Molecular Diagnosis of Genetic Diseases, Dongfang Hospital, Xiamen University Medical College, 156 Xi'erhuanbei Road, Fuzhou City, Fujian Province 350025, P.R. China, Phone/Fax: +8659183721105.

PMID: 30710477
DOI: 10.1515/cclm-2018-1271

No abstract available

Keywords: partial 21q monosomy; primary ovarian insufficiency; whole exome sequencing.

Publication types

Case Reports
Letter

MeSH terms

Adult
Chromosomes, Human, Pair 21 / genetics
Exome Sequencing / methods
Female
Humans
Monosomy / genetics*
Mutation / genetics
Primary Ovarian Insufficiency / etiology
Primary Ovarian Insufficiency / genetics*

Supplementary concepts

Chromosome 21 monosomy