Description:
DERIVATIVE CHROMOSOME
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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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Ethnicity
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IRISH/SCOTTISH/DUTCH
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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,der(6)t(6;?21)(p25;?p11.2).ish der(6)t(6;?21)(p25;?p11.2)(6ptel48-,D6Z1+,D15Z1-).arr 6p25.3(94648-2480663)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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| Remarks |
Severe acquired failure to thrive with striking sparing of the head circumference; widely open anterior fontanelle; right-sided hearing impairment; selective expressive language impairment; severe dysphonia; unusual skeletal dysplasia (small fingers, short radii and possibly hypoplastic odontoid); nonspecific MRI changes: ventricular enlargement and periventricular white matter T2 signal prolongation and enlarged subarachnoid spaces); subtle dysmorphic features: mild hypertelorism, subtle downslanting of the palpebral fissures, depressed nasal bridge and subtle indentation of the tip of the tongue at the midline; history of recurrent lung infections believed to be secondary to chronic aspiration |
| 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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