Exome and Genome Sequencing to Unravel the Precise Breakpoints of Partial Trisomy 6q and Partial Monosomy 2q
Release date:
Here, we combine exome and genome sequencing techniques to secure the precise breakpoints of heterozygous microduplications in the 6q 25.3-q27 region and microdeletions in the 2q37.1-q37.3 region in a proband. The 5-year-old girl exhibited a severe form of congenital cranial dysinnervation disorders(CCDD), in addition to skeletal dysmorphism anomalies and severe intellectual disability. This is the second case affecting chromosomes 2q and 6q. The individual's karyotype showed an unbalanced translocation 46,XX,del(2)t(2;6)(q37.1;q25.3), which was inherited from her unaffected father 46,XY,t(2;6)(q37.1;q25.3). We also get the precise breakpoint of de novo heterozygous copy number deletion with del(2)(q37.1q37.3)chr2:g.232963568_24305260del and copy number duplication with dup(6)(q25.3q27)chr6:g.158730978_170930050dup.
Data Accessibility:   
Controlled access Request Data
Study type:
Disease Study
Disease name:
cranial nerve disease
Data Access Committee

For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.

DAC name:
CCDD data admin
Contact person:
Zhang Shuang
this CCDD data admin is about to control or give approval for the CCDD tio-family case.
Individuals & samples
Submitter:   Zhang Shuang /
Organization:   People's Hospital of Ningxia Hui Autonomous Region,Ningxia Medical University
Submission date:   2023-09-13
Requests:   -