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


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.


hemivertebra polydactyly ventricular septal defect abnormal ears 



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).


  1. Balkan M., Duran H. and Budak T. 2009 Tetrasomy 18p in a male dysmorphic child in southeast turkey. J. Genet. 88, 337–341.CrossRefGoogle Scholar
  2. Bawazeer S., Alshalan M., Alkhaldi A., Alatwi N., Albalwi M., Alswaid A. et al. 2018 Tetrasomy 18p: case report and review of literature. Appl. Clin. Genet. 11, 9–14.CrossRefGoogle Scholar
  3. Dutrillaux B. 1975 La trisomie 4q partielle. A propos de trois observations. Ann. Genet. 18, 21–27.PubMedGoogle Scholar
  4. Fryns J. P. and Van Den Berghe H. 1980 Partial duplication of the long arm of chromosome. Ann. Genet. 23, 52–53.PubMedGoogle Scholar
  5. Gentile M., Volpe P., Cariola F., Di Carlo A., Marotta V., Buonadonna A. L. and Boscia F. M. 2005 Prenatal diagnosis of chromosome 4 mosaicism: prognostic role of cytogenetic, molecular, and ultrasound/MRI characterization. Am. J. Med. Genet. A 136, 66–70.CrossRefGoogle Scholar
  6. Inan C., Sayın N. C., Atlı E., Ulusal S., Erzincan S., Uzun I. et al. 2016 Tetrasomy 18p in a twin pregnancy with diverse expression in both fetuses. Fetal Pediatr. Pathol. 35, 339–343.CrossRefGoogle Scholar
  7. Jeziorowska A. I., Ciesla W., Houck G. E. Jr, Yao X. L., Harris M. S., Truszczak B. et al. 1993 Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4 (q21.3-q31.3). Am. J. Med. Genet. 46, 83–87.CrossRefGoogle Scholar
  8. Liehr T. and Weise A. 2007 Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int. J. Mol. Med. 19, 719–731.PubMedGoogle Scholar
  9. Liehr T., Mrasek K., Kosyakova N., Ogilvie C. M., Vermeesch J., Trifonov V. et al. 2008 Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them. Mol. Cytogenet. 1, 12.CrossRefGoogle Scholar
  10. Mikelsaar R. V., Lurie I. W. and Ilus T. E. 1996 Pure partial trisomy 4q25-qter owing to a de novo 4q22 translocation. J. Med. Genet. 33, 344–345.CrossRefGoogle Scholar
  11. Rinaldi R., De Bernardo C., Assumma M., Grammatico B., Buffone E., Poscente M. et al. 2003 Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotype. Am. J. Med. Genet, Part A 118, 122–126.CrossRefGoogle Scholar
  12. Sebold C., Roeder E., Zimmerman M., Soileau B., Heard P., Carter E. et al. 2010 Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. Am. J. Med. Genet., Part A 152A, 2164–2172.CrossRefGoogle Scholar
  13. Taylor K. M., Francke U., Brown M. G., George D. L. and Kaufhold M. 1977 Inverted tandem (“mirror”) duplications in human chromosomes: -nv dup 8p, 4q, 22q. Am. J. Med. Genet. 1, 3–19.CrossRefGoogle Scholar
  14. Vogel W., Siebers J. W. and Gunkel J. 1975 Uneinheitlicher phanotyp bei partial trisomie 4q. Humangenetik 28, 103–112.PubMedGoogle Scholar

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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