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Chromosome 22q11.21 and 11p15.4 microdeletions confirmed by DNA high throughput sequencing analysis in one patient with asymmetric cry syndrome:Case report and review of the literature
  • +3
  • Yonghong Pang,
  • Yang Yu,
  • Xiaoyi Deng,
  • Qian Liu,
  • Junmei Yan,
  • Xiangyu Gao
Yonghong Pang
center for medical neonatal Xuzhou maternity and child health hospital
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Yang Yu
Center for Medical Neonatal, Xuzhou Maternity and Child Health Hospital
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Xiaoyi Deng
Center for Medical Neonatal, Xuzhou Maternity and Child Health Hospital
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Qian Liu
Center for Medical Neonatal, Xuzhou Maternity and Child Health Hospital
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Junmei Yan
Center for Medical Neonatal, Xuzhou Maternity and Child Health Hospital
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Xiangyu Gao
Xuzhou Affiliated Hospital of East South University Xuzhou, Jiangsu, China
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Abstract

The case report describes a newborn case of ACS based on clinical presentation(s) and microdeletions of 22q11.21 and 11p15.4 using DNA high throughput sequencing analysis. This finding has implications for ACS diagnosis and overcomes the limitations associated with FISH by using the DNA high throughput sequencing across the whole genome.

Peer review status:UNDER REVIEW

11 Oct 2020Submitted to Clinical Case Reports
17 Oct 2020Assigned to Editor
17 Oct 2020Submission Checks Completed
30 Oct 2020Reviewer(s) Assigned