Description:
CHROMOSOME DELETION
COPY NUMBER VARIATION (CNV) REFERENCE PANEL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Black/African American
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XY,del(13)(q32q33).arr[hg19] 13q32.1q33.3(98158969-110263569)x1,21q21.3(27316123-29519188)x1
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| CNVPANEL |
For more information click here:CNVPANEL01 |
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| Cytogenetics |
Chromosome 13: DELETION Aneuploid Segment (-)13q32>13qter |
| Remarks |
Facial asymmetry, wide-spaced eyes; bilateral epicanthal folds; low-set ears; maxillary hypoplasia; hypertonia; severe psychomotor retardation; 50th percentile for height, weight, and head circumference |
| Tan VJ, Liu T, Arifin Z, Pak B, Tan ASC, Wong S, Khor CC, Yang H, Lee CG, Huang Z, Choolani MA, Chong SS, Third-Generation Single-Molecule Sequencing for Preimplantation Genetic Testing of Aneuploidy and Segmental Imbalances Clinical chemistry: 2022 |
| PubMed ID: 37477572 |
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| Biricik A, Cotroneo E, Minasi MG, Greco PF, Bono S, Surdo M, Lecciso F, Sessa M, Fiorentino F, Spinella F, Greco E, Cross-Validation of Next-Generation Sequencing Technologies for Diagnosis of Chromosomal Mosaicism and Segmental Aneuploidies in Preimplantation Embryos Model Life (Basel, Switzerland)11: 2021 |
| PubMed ID: 33921258 |
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| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
| PubMed ID: 35039224 |
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| 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 |
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