List of commonly deleted regions in MDS/MPD-U patients.

NIAID Data Ecosystem2026-03-07 收录

骨髓增生异常综合征基因研究

染色体缺失

数据链接：

https://figshare.com/articles/dataset/_List_of_commonly_deleted_regions_in_MDS_MPD_U_patients_/612560 数据链接链接失效反馈

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资源简介：

List of commonly deleted regions in MDS/MPD-U patients.

创建时间：

2013-02-21

16p11.2 distal deletion syndrome

遗传病研究

染色体缺失

16p11.2 distal deletion syndrome is a rare genetic disorder (copy number variation) caused by a deletion on chromosome 16 in the range 28.74-28.95-Mb. The breakpoints in this pathway are chr16:28,823,

wikipathways.github.io40

Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder

染色体缺失

自闭症遗传关联

ABSTRACT Chromosomal abnormalities are responsible for several congenital malformations in the world, some of these are associated to telomeric/subtelomeric deletions. The abnormalities involving the

Figshare2020-03-01 更新30

Custom Agilent array-CGH of somatic cell hybrids targeted to 17q21.31 deletion syndrome locus. Custom Agilent array-CGH of somatic cell hybrids targeted to 17q21.31 deletion syndrome locus

染色体缺失

CGH比较基因组杂交

This is array CGH data of recurrent 17q21.31 deletions used to delineate breakpoints within segmental duplications in a study by Itsara et al. Somatic cell hybrids were generated from three parent-chi

NIAID Data Ecosystem30

Data_Sheet_1_Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature.xlsx

染色体缺失

基因型-表型关联分析

Interstitial deletions on the long arm of chromosome 12 (12q deletions) are rare, and are associated with intellectual disability, developmental delay, failure to thrive and congenital anomalies. The

NIAID Data Ecosystem40

Genome Characterization of 9p- Syndrome

疾病基因组学

染色体缺失

We characterized the precise genomic breakpoints of the complex structural variant associated with 9p- syndrome in one individual.

NIAID Data Ecosystem30