Description:
ANIRIDIA 1; AN1
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 |
| Class |
Ophthalmologic Disorders |
| 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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Family Member
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2
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Relation to Proband
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half-brother
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY,t(11;22)(11qter>11p13::22q11.2 or 12.2>22qter;22pter>22q11.2 or 12.2:: 11p13>11pter)pat
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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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| Cytogenetics |
Chromosome 11: TRANSLOCATION Breakpoint 11p13 t(11;22)11p13 |
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Chromosome 22: TRANSLOCATION Breakpoint 22q11 t(11;22)22q11 |
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Chromosome 22: TRANSLOCATION Breakpoint 22q12 t(11;22)22q12 |
| Remarks |
Clinically affected; aniridia, cataracts, hyperopia, and nystagmus first noted at 3 months of age; at age 12 years there was pendular nystagmus, bilateral total aniridia, bilateral posterior subcapsular cataractous changes, and absent foveae; normal ocular pressure; visual acuity 20/400 corrected; no genitourinary tract abnormalities; IQ=67; familial chromosome translocation; father (GM10274), paternal half-sister (GM10273), and paternal grandmother also affected with aniridia and familial chromosome translocation; seven family members in 4 generations affected with aniridia but karyotype unknown. |
| Moore JW, Hyman S, Antonarakis SE, Mules EH, Thomas GH, Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]. Hum Genet72:297-302 1986 |
| PubMed ID: 3754537 |
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