Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy.
第一作者:
Yasemin,Soysal
第一单位:
Afyon Kocatepe University Faculty of Medicine, Department of Medical Genetics, Morfoloji Binasi Ali Cetinkaya Kampüsü Izmir yolu 8.km., 03200 Afyonkarahisar, Turkey. yasemin_soysal@yahoo.com
作者:
主题词
成年人(Adult);大脑皮质(Cerebral Cortex);染色体显带(Chromosome Banding);染色体, 人, 4对(Chromosomes, Human, Pair 4);比较基因组杂交(Comparative Genomic Hybridization);癫痫(Epilepsy);女(雌)性(Female);髋脱位(Hip Dislocation);人类(Humans);婴儿(Infant);核型分析(Karyotyping);男(雄)性(Male);镶嵌现象(Mosaicism);妊娠(Pregnancy);环状染色体(Ring Chromosomes)
DOI
10.1002/ajmg.a.33069
PMID
19921639
发布时间
2020-09-30
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