环状染色体
遗传学
生物
比较基因组杂交
核型
染色体
荧光原位杂交
细胞遗传学
基因复制
22号染色体
拷贝数变化
基因
分子生物学
基因组
作者
Shengfang Qin,Xue-Yan Wang,Yunxing Li,Ping Wei,Chun Chen,Lan Zeng
出处
期刊:PubMed
日期:2016-02-01
卷期号:33 (1): 71-5
标识
DOI:10.3760/cma.j.issn.1003-9406.2016.01.018
摘要
To explore the genetics mechanism for the phenotypic variability in a patient carrying a rare ring chromosome 9.The karyotype of the patient was analyzed with cytogenetics method. Presence of sex chromosome was confirmed with fluorescence in situ hybridization. The SRY gene was subjected to PCR amplification and direct sequencing. Potential deletion and duplication were detected with array-based comparative genomic hybridization (array-CGH).The karyotype of the patient has comprised 6 types of cell lines containing a ring chromosome 9. The SRY gene sequence was normal. By array-CGH, the patient has carried a hemizygous deletion at 9p24.3-p23 (174 201-9 721 761) encompassing 30 genes from Online Mendelian Inheritance in Man.The phenotypic variability of the 9p deletion syndrome in conjunct with ring chromosome 9 may be attributable to multiple factors including loss of chromosomal material, insufficient dosage of genes, instability of ring chromosome, and pattern of inheritance.
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