Description:
DUPLICATED CHROMOSOME
CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities dbGaP |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
DNA from LCL
|
Race
|
White
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XY,dup(15)(q11q13).ish dup(15)(q11q13)(D15Z1+,GABRB3 enh,D15S11 enh).arr 15q11.2q13.1(21245026-26500067)x3
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
|
Cytogenetics |
Chromosome 15: DUPLICATION Aneuploid Segment (+)15q11>15q12 |
Greer SU, Botello J, Hongo D, Levy B, Shah P, Rabinowitz M, Miller DE, Im K, Kumar A, Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic Journal of translational medicine21:378 2023 |
PubMed ID: 37301971 |
|
Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
PubMed ID: 23665875 |
View |
FISH Spectrum Green detects D15Z1 ; Spectrum Orange detects GABRB3 |
|
FISH Spectrum Green detects D15Z1 ; Spectrum Orange detects D15S11 |
|
karyotype Spectrum Green detects D15Z1 ; Spectrum Orange detects D15S11 |
|
MicroArray Chromosome 15 Zoom View |
|
MicroArray Karyotype View of the copy number segment changes detected by the Affymetrix Genome Wide Human SNP Array 6.0 |
|
|