Copy number variations have been found in patients with neural tube abnormalities.In this study,we performed genome-wide screening using high-resolution array-based comparative genomic hybridization in three children ...Copy number variations have been found in patients with neural tube abnormalities.In this study,we performed genome-wide screening using high-resolution array-based comparative genomic hybridization in three children with tethered spinal cord syndrome and two healthy parents.Of eight copy number variations,four were non-polymorphic.These non-polymorphic copy number variations were associated with Angelman and Prader-Willi syndromes,and microcephaly.Gene function enrichment analysis revealed that COX8 C,a gene associated with metabolic disorders of the nervous system,was located in the copy number variation region of Patient 1.Our results indicate that array-based comparative genomic hybridization can be used to diagnose tethered spinal cord syndrome.Our results may help determine the pathogenesis of tethered spinal cord syndrome and prevent occurrence of this disease.展开更多
Tethered spinal cord syndrome （TCS） is a condition of overstretching or compression of the caudal part of the spinal cord caused by various spinal lesions, such as a tight filum terminale or an intraspinal lipoma.l-...Tethered spinal cord syndrome （TCS） is a condition of overstretching or compression of the caudal part of the spinal cord caused by various spinal lesions, such as a tight filum terminale or an intraspinal lipoma.l-9 Though it is a well-recognized cause of neurological deterioration in childhood, its symptomatic onset in adulthood is uncommon. Eleven cases of TCS are presented here. In addition, their related clinical features, surgical procedures and outcomes are investigated.展开更多
文摘Copy number variations have been found in patients with neural tube abnormalities.In this study,we performed genome-wide screening using high-resolution array-based comparative genomic hybridization in three children with tethered spinal cord syndrome and two healthy parents.Of eight copy number variations,four were non-polymorphic.These non-polymorphic copy number variations were associated with Angelman and Prader-Willi syndromes,and microcephaly.Gene function enrichment analysis revealed that COX8 C,a gene associated with metabolic disorders of the nervous system,was located in the copy number variation region of Patient 1.Our results indicate that array-based comparative genomic hybridization can be used to diagnose tethered spinal cord syndrome.Our results may help determine the pathogenesis of tethered spinal cord syndrome and prevent occurrence of this disease.
文摘Tethered spinal cord syndrome （TCS） is a condition of overstretching or compression of the caudal part of the spinal cord caused by various spinal lesions, such as a tight filum terminale or an intraspinal lipoma.l-9 Though it is a well-recognized cause of neurological deterioration in childhood, its symptomatic onset in adulthood is uncommon. Eleven cases of TCS are presented here. In addition, their related clinical features, surgical procedures and outcomes are investigated.
