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Systematic analysis of copy number variants of uncertain significance partially overlapping with the haploinsufficient or triplosensitive genes in clinical testing.
Zhou, Ran; Jiao, Jiao; Wang, Yan; Meng, Lulu; Li, Yiming; Xu, Yiyun; Hu, Ping; Xu, Zhengfeng.
Affiliation
  • Zhou R; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China.
  • Jiao J; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China.
  • Wang Y; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China.
  • Meng L; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China.
  • Li Y; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China.
  • Xu Y; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China.
  • Hu P; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China.
  • Xu Z; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China.
Ann Med ; 55(2): 2276824, 2023.
Article de En | MEDLINE | ID: mdl-37917952
This study assessed the clinical impact and features of a special type of copy number variants of uncertain significance (HT-VUS) in samples from CMA retrospectively.Out of 7150 samples screened, 75 (1.05%) subjects had HT-VUS. Most HT-VUS were heterozygous duplications and chromosome X had the highest frequency of HT-VUS.HT-VUS (deletions or duplications) involving introns and HT-VUS (duplications) including terminal coding exons might be clinically neutral. This study would be helpful for future interpretation and genetic counselling.
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Dépistage génétique / Variations de nombre de copies de segment d'ADN Limites: Female / Humans / Pregnancy Langue: En Journal: Ann Med Sujet du journal: MEDICINA Année: 2023 Type de document: Article Pays d'affiliation: Chine Pays de publication: Royaume-Uni

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Dépistage génétique / Variations de nombre de copies de segment d'ADN Limites: Female / Humans / Pregnancy Langue: En Journal: Ann Med Sujet du journal: MEDICINA Année: 2023 Type de document: Article Pays d'affiliation: Chine Pays de publication: Royaume-Uni