A small supernumerary marker chromosome resulting in mosaic partial tetrasomy 4q26-q31.21 in a foetus with multiple congenital malformations
| Autor: | Caixia Liu, Wen-Xu Qi, Jesse Li-Ling, Shaowei Yin, Yuan Lv, Zhitao Zhang, Yan Zhao |
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| Rok vydání: | 2019 |
| Předmět: |
0106 biological sciences
0301 basic medicine Pathology medicine.medical_specialty Polydactyly Karyotype Prenatal diagnosis Biology medicine.disease 01 natural sciences 03 medical and health sciences 030104 developmental biology Genetic marker Tetrasomy Gene duplication Genetics medicine Supernumerary Small supernumerary marker chromosome 010606 plant biology & botany |
| Zdroj: | Journal of Genetics. 98 |
| ISSN: | 0973-7731 0022-1333 |
| DOI: | 10.1007/s12041-019-1075-4 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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