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

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 nextgeneration sequencing (NGS)were carried out. Finally, conventional cytogenetic analysis suggested that the foetus had a karyotype of47,XX,+mar[52]/46,XN,meanwhileNGSalso revealed a partial tetrasomy of 27.84Mbfrom4q26-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.

Citation

Zhang Zhi-Tao, Qi Wen-Xu, Liu Cai-Xia, Yin Shao-Wei, Zhao Yan, Li-Ling Jesse, Lv Yuan. A small supernumerary marker chromosome resulting in mosaic partial tetrasomy 4q26-q31.21 in a foetus with multiple congenital malformations. Journal of Genetics. 2019 Feb; 98: 1-4

URI

https://imsear.searo.who.int/handle/123456789/215477

Collections

Journal of Genetics

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