Description:
RING 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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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,r(15)(p12q26)[18]/46,XX,r(15;?)(p12q26;?)[2].arr 15q14(32514901-32643098)x1,15q26.3(97799969-100276767)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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| Cytogenetics |
Chromosome 15: RING CHROMOSOME Aneuploid Segment (-)15pter>15q12 |
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Chromosome 15: RING CHROMOSOME Aneuploid Segment (-)15q26>15qter |
| Remarks |
Microcephaly; cafe-au-lait spots; high arched palate; fifth-finger clinodactyly; mild speech delay; bone age exams were consistent with severe retardation of skeletal maturation; height had a -4 standard deviation score; at age 7 years IGF-I level was 34.2 mU/ml (normal range 440-3600 mU/ml); at age 7 1/2 years started on synthetic human growth hormone treatment with some success |
| 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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| Peoples R, Milatovich A, Francke U, Hemizygosity at the insulin-like growth factor I receptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome Cytogenetics and cell genetics70:228-34 1995 |
| PubMed ID: 7789178 |
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