Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2020
[Genetic analysis of a case of mosaic trisomy 21 associated with autism spectrum disorder].
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Yan Dongmei, Zhao Yali, Wang Zhiwei, Yin Ting, Yang Shuting, Tang Xinxin, Wang Leilei
Аннотация
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.
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.