Description:
HYPERGLYCEROLEMIA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Blood
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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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Not Reported
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Country of Origin
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USA
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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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Clinical summary/Case history
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ISCN
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46,XY.arr[hg19] Xp21.2(30014332-30405474)x0,Xp21.2(30645934-30885742)x0,22q11.21(18781533-19006984)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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| Remarks |
Clinically affected; onset of symptoms at day of life 3; diagnosed at day of life 15; mental retardation; deletion of DAX1 (NR0B1) and GK genes, with telomeric breakpoint between DXS28 (C7) and DXS727 (YHX39), centromeric breakpoint between DXS708 (JC-1) and DXS726 (FT1); Deletion of IL1RAPL1 (interleukin-1 receptor accessory protein-like, gene 1). |
| Zhang YH, Huang BL, Niakan KK, McCabe LL, McCabe ER, Dipple KM, IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1 Human mutation24:273 2004 |
| PubMed ID: 15300857 |
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