Description:
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
Muscular Dystrophies |
| Class |
Congenital Muscle Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| 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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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,X,t(X;2)(Xqter>Xp21.2::2q37> 2qter;2pter>2q37::Xp21.2>Xpter)
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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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| creatine kinase |
According to the submitter, biochemical test results for this subject showed increased enzyme activity. EC Number: 2.7.3.2 |
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| Cytogenetics |
Chromosome 2: TRANSLOCATION Breakpoint 2q37 t(X;2)2q37 |
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Chromosome X: TRANSLOCATION Breakpoint Xp21 t(X;2)Xp21 |
| Remarks |
Clinically affected female; X/autosome de novo balanced chromosome translocation; normal X chromosome is late replicating; negative family history; hypotonia; delayed milestones; microcephaly; performance IQ of 22; flat-footed, slapping gait; positive Gower's sign; calf hypertrophy; diminished reflexes; marked proximal muscle weakness of hips and shoulder girdles; at age 14 showed signs of a spastic diplegia with hyperreflexia and ankle clonus; flexion contractures of both elbows; EMG showed evidence of myopathy; muscle biopsy showed changes reflecting a severe active necrotizing myopathy; elevated CPK ranging from 40 to 28,000 over the course of 13 years; no dystrophin gene deletion/duplication detectable by PCR. |
| Holden JJ, Smith A, MacLeod PM, Masotti R, Duncan AM, Xp21/autosome translocations. Case report and risk for Duchenne muscular dystrophy. Clin Genet29:516-22 1986 |
| PubMed ID: 3742857 |
| dbSNP |
dbSNP ID: 13859 |
| NCBI GTR |
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
| OMIM |
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
| Omim Description |
APO-DYSTROPHIN 1, INCLUDED |
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BMDDYSTROPHIN, INCLUDED; DMD, INCLUDED |
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CARDIOMYOPATHY, X-LINKED DILATED, INCLUDED; XLCM, INCLUDED |
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MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKERTYPES; DMD |
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