ID
45541
Beschreibung
Principal Investigator: Stephanie L. Sherman, PhD, Emory University, Atlanta, GA, USA MeSH: Nondisjunction, Genetic,Trisomy,Down Syndrome https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000718 The overall goal of the project is to identify genetic risk factors associated with chromosome 21 nondisjunction in the oocyte. The dataset derives from multi-site collection of live birth probands with Down syndrome due to standard trisomy 21 (T21) and their biological parents. The type of nondisjunction error (NDJ)(maternal or paternal) in all cases has been determined to be maternal in origin based on the chromosome 21 variants contributed from parent to proband. The Center of Inherited Disease with support from NICHD has conducted genome-wide genotyping using the Illuminia Human OmniExpress Plus Exome array on approximately 800 women who have been identified through their offspring with DS and have been characterized as having a maternal meiois I (MI) or meiosis II (MII) nondisjunction error. Genotypes from biological fathers of the offspring with DS can be used with the data on mothers to better define the type of nondisjunction error (MI or MII) and to refine the chromosome 21 recombination profile. We provide the type of nondisjunction error, knowing that this will be updated based on the new panel. We do not provide the recombination profile, as this can be best defined using the new comprehensive set of SNPs in the OmniExpress panel.
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Stichworte
Versionen (1)
- 04.01.23 04.01.23 - Simon Heim
Rechteinhaber
Stephanie L. Sherman, PhD, Emory University, Atlanta, GA, USA
Hochgeladen am
4. Januar 2023
DOI
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Lizenz
Creative Commons BY 4.0
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dbGaP phs000718 Trisomy 21 Nondisjunction (T21NDJ)
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent information, and subject aliases for probands with Down syndrome due to standard trisomy 21 and their biological parents.
- This pedigree data table shows family relationships through family IDs, subject IDs, father IDs, mother IDs, sex, and additional notes about the pedigree.
- The subject sample mapping data table includes a mapping of study subject IDs to sample IDs. dbGaP samples are defined as the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This subject phenotype table includes parent origin and stage of nondisjunction error, self-reported maternal race, maternal age, family number and relationship descriptor, sex, site family was recruited through, cytogenetic and karyotype results for children, and variable to indicate if genotyping was successfully completed.
- This sample attributes table includes the body site where sample was collected, analyte type, and tumor status.
Ähnliche Modelle
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent information, and subject aliases for probands with Down syndrome due to standard trisomy 21 and their biological parents.
- This pedigree data table shows family relationships through family IDs, subject IDs, father IDs, mother IDs, sex, and additional notes about the pedigree.
- The subject sample mapping data table includes a mapping of study subject IDs to sample IDs. dbGaP samples are defined as the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This subject phenotype table includes parent origin and stage of nondisjunction error, self-reported maternal race, maternal age, family number and relationship descriptor, sex, site family was recruited through, cytogenetic and karyotype results for children, and variable to indicate if genotyping was successfully completed.
- This sample attributes table includes the body site where sample was collected, analyte type, and tumor status.
C0680251 (UMLS CUI [1,2])
C1858460 (UMLS CUI [1,2])
C0680063 (UMLS CUI [1,3])
C0013080 (UMLS CUI [1,4])
C0028303 (UMLS CUI [1,5])
C0043210 (UMLS CUI [1,2])
C0012854 (UMLS CUI [1,3])
C0370003 (UMLS CUI [1,4])
C0680063 (UMLS CUI [1,5])
C0013080 (UMLS CUI [1,6])
C0015671 (UMLS CUI [1,7])
C0028303 (UMLS CUI [1,8])
C0034510 (UMLS CUI [1,9])
C1512693 (UMLS CUI [1,10])
C0007457 (UMLS CUI [1,11])