Description:
CHROMOSOME DELETION
DUPLICATED CHROMOSOME
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
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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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Family History
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N
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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,der(1)dup(1)(q41q43)del(1)(q43).ish der(1)dup(1)(q41q43)del(1)(q43)(CEB108/T7+,D1S2728-).arr 1q41q43(220640801-236223828)x3,1q43q44(236225618-247190999)x1,2q13(110125518-110337635)x1,13q34(112341486-112877092)x3
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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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| Cytogenetics |
Chromosome 1: DELETION Aneuploid Segment (-)1q43>1qter |
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Chromosome 1: DUPLICATION Aneuploid Segment (+)1q42>1q43 |
| Remarks |
Small for gestational age; small head; enlarged anterior fontanel; separated metopic suture; prominent forehead; downslanting palpebral fissures; abnormal ears; migrognathia; short sternum; right camptodactyly; bilateral clinodactyly of the fifth finger; prominent heels; sacral dimple; ventricular septal defect; patent ductus arteriosus; pulmonary stenosis; failure to thrive; severe global developmental delay; bilateral simian crease; deceased at age 11 months |
| 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 |
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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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| Mewar R, Harrison W, Weaver DD, Palmer C, Davee MA, Overhauser J, Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype. Am J Med Genet52(2):178-83 1994 |
| PubMed ID: 7802005 |
| View |
FISH Spectrum Green detects 1pter / Spectrum Orange detects 1qter |
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karyotype Spectrum Green detects 1pter / Spectrum Orange detects 1qter |
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