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;4)(Xqter>Xp21::4q35>4qter;4pter>4q35::Xp21>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 4: TRANSLOCATION Breakpoint 4q35 |
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Chromosome 4: TRANSLOCATION Breakpoint 4q35 t(X;4)4q35 |
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Chromosome X: TRANSLOCATION Breakpoint Xp21 |
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Chromosome X: TRANSLOCATION Breakpoint Xp21 t(X;4)Xp21 |
| Remarks |
Clinically affected female; X/autosome de novo balanced chromosome translocation; normal X chromosome is late replicating; at age 4 1/2 there was a normal gait, no lumbar lordosis, no Gower sign, weakness exhibited when climbing stairs, weak facial and shoulder girdle musculature; elevated CPK's ranging from 1260 to 4200; no dystrophin gene deletion or duplication detectable by PCR. |
| Tam R, Smith KP, Lawrence JB, The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres. J Cell Biol167(2):269-79 2004 |
| PubMed ID: 15504910 |
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| Wijmenga C, Wright TJ, Baan MJ, Padberg GW, Williamson R, van Ommen GJ, Hewitt JE, Hofker MH, Frants RR, Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene- region. Hum Mol Genet2:1667-72 1993 |
| PubMed ID: 8268920 |
| dbSNP |
dbSNP ID: 20933 |
| 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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