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A Small Supernumerary Marker Chromosome Resulting in Mosaic Partial Tetrasomy 4q26-q31.21 in a Foetus With Multiple Congenital Malformations

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  • PMID: 30945692

A Small Supernumerary Marker Chromosome Resulting in Mosaic Partial Tetrasomy 4q26-q31.21 in a Foetus With Multiple Congenital Malformations

Zhi-Tao Zhang et al. J Genet.

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 of47,XX,+mar[52]/46,XN, meanwhile NGS also revealed a partial tetrasomy of 27.84Mb 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.

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