Description:
ISODICENTRIC CHROMOSOME
AUTISTIC DISORDER
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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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis before cell line submission to CCR
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ISCN
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47,XY,+idic(15)(q13).ish idic(15)(q13)(D15Z1++,D15S11++,GABRB3++).arr Yq11.223q11.23(23920264-27079691)x2,15q11.1q13.3(18276329-30557740)x4
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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 LINE assay |
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| CNVPANEL |
For more information click here:CNVPANEL01 |
| |
| Cytogenetics |
Chromosome 15: DICENTRIC CHROMOSOME Aneuploid Segment (+)15pter>15q13 |
| Remarks |
Clinically affected; moderate to severe cognitive impairment; meets criteria for autism on ADI-R and ADOS-G; seizure disorder; father is GM20555; mother is GM20551. |
| Nyaga DM, Tsai P, Gebbie C, Phua HH, Yap P, Le Quesne Stabej P, Farrow S, Rong J, Toldi G, Thorstensen E, Stark Z, Lunke S, Gamet K, Van Dyk J, Greenslade M, O'Sullivan JM, Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand NPJ genomic medicine9:57 2024 |
| PubMed ID: 39516456 |
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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 2022 |
| PubMed ID: 35039224 |
| |
| 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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| Wang NJ, Liu D, Parokonny AS, Schanen NC, High-Resolution Molecular Characterization of 15q11-q13 Rearrangements by Array Comparative Genomic Hybridization (Array CGH) with Detection of Gene Dosage. Am J Hum Genet75:267-281 2004 |
| PubMed ID: 15197683 |
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