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Journal of Genetics

, 98:22 | Cite as

A small supernumerary marker chromosome resulting in mosaic partial tetrasomy 4q26-q31.21 in a foetus with multiple congenital malformations

  • Zhi-Tao Zhang
  • Wen-Xu Qi
  • Cai-Xia Liu
  • Shao-Wei Yin
  • Yan Zhao
  • Jesse Li-Ling
  • Yuan LvEmail author
Research Note
  • 25 Downloads

Abstract

A parental diagnosis was performed for an unborn foetus of a healthy couple, who was due for ultrasound detection of multiple malformations and abnormal amniotic fluid karyotypes. For an accurate diagnosis, routine G-banding analysis and next-generation sequencing (NGS) were carried out. Finally, conventional cytogenetic analysis suggested that the foetus had a karyotype of 47,XX,+mar[52]/46, XN, meanwhile NGS also revealed a partial tetrasomy of 27.84 Mb from 4q26-q31.21 (117,385,735–145,225,759), and G-banding analysis excluded the couple to have carried the 4q26-q31.21 duplication. We have identified a de novo mosaic small supernumerary marker chromosomes (sSMC) derived from 4q26-q31.21 in a foetus with hemivertebra, polydactyly, abnormal ears, and heart and ventricular septal defect.

Keywords

hemivertebra polydactyly ventricular septal defect abnormal ears 

Notes

Acknowledgements

We thank the family who have participated in this study. This work was jointly supported by the Natural Science Foundation of China (no. 81701462) and Obstetric Diseases Translational Medicine Research Center Project of Liaoning Province (no. 2014225007).

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Copyright information

© Indian Academy of Sciences 2019

Authors and Affiliations

  • Zhi-Tao Zhang
    • 1
  • Wen-Xu Qi
    • 2
  • Cai-Xia Liu
    • 1
  • Shao-Wei Yin
    • 1
  • Yan Zhao
    • 3
  • Jesse Li-Ling
    • 4
  • Yuan Lv
    • 1
    Email author
  1. 1.Liaoning Centre for Prenatal Diagnosis, Department of Gynecology and ObstetricsShengjing Hospital Affiliated to China Medical UniversityShenyangPeople’s Republic of China
  2. 2.Department of RadiologyShengjing Hospital Affiliated to China Medical UniversityShenyangPeople’s Republic of China
  3. 3.Genetics UnitShenyang Maternity and Infant’s HospitalShenyangPeople’s Republic of China
  4. 4.Jinxin Research Institute of Reproductive Medicine and GeneticsJinjiang Maternal and Children’s Health Care HospitalChengduPeople’s Republic of China

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