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A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature
  • +2
  • tian qin deng,
  • qingzhi liu,
  • jiansheng xie,
  • xuemei li,
  • bing yao
tian qin deng
Southern Medical University Clinical Medical College
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qingzhi liu
Southern Medical University Clinical Medical College
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jiansheng xie
Shenzhen Maternity and Childcare Hospital
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xuemei li
Shenzhen Maternity and Childcare Hospital
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bing yao
Southern Medical University Clinical Medical College
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Abstract

Diagnosis of KBGS due to a high risk identified by early Down's syndrome screening has not been reported in previous studies, and the prominent KBGS phenotype and absence of specificity on early ultrasound examination also pose a challenge for genetic diagnosis.

Peer review status:UNDER REVIEW

13 Jul 2021Submitted to Clinical Case Reports
15 Jul 2021Assigned to Editor
15 Jul 2021Submission Checks Completed
20 Jul 2021Reviewer(s) Assigned