Description:
CHROMOSOME 1P36 DELETION SYNDROME
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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Country of Origin
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USA
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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,XX.ish del(1)(p36.32)(CEB108/T7-,SKI-,D1S3739+).arr 1p36.32(742429-5215341)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 LINE assay |
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| CNVPANEL |
For more information click here:CNVPANEL01 |
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| Cytogenetics |
Chromosome 1: DELETION Aneuploid Segment (-).ish del(1)(:p36.32>qter) |
| Remarks |
Clinically affected; myoclonic seizures; hypotonia; cold extremities; 4.0-4.5 MB deletion on chromosome 1p36 (apparently simple terminal truncation). |
| 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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| 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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| Gajecka M, Mackay KL, Shaffer LG, Monosomy 1p36 deletion syndrome American journal of medical genetics Part C, Seminars in medical genetics145C:346-56 2007 |
| PubMed ID: 17918734 |
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