Genetic analysis of a case of mosaic trisomy 21 associated with autism spectrum disorder / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 190-194, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-781267
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child with autism spectrum disorder (ASD) and congenital heart disease.@*METHODS@#G-banded chromosomal karyotyping was carried out for the patient and his parents. The child was also subjected to whole exome sequencing (WES) and low-coverage massively parallel copy number variation sequencing (CNV-seq). The result was validated by chromosomal microarray analysis (CMA).@*RESULTS@#The karyotype of the patient and his parents were normal. No significant genetic variation was found by WES. However, CNV-seq has discovered a 47, XY, +21 [10%]/46,XY [90%] mosaicism in the patient. The result was confirmed by CMA.@*CONCLUSION@#In addition to Down syndrome, low proportion mosaic trisomy 21 is also associated with ASD. WES and CNV-seq can enable accurate diagnosis for patient with unexplained ASD.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article
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