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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1
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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,XX,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 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 and nystagmus noted in newborn period; developmental delay noted at 9 months; brachydactyly of fifth digits; hemangioma of right labia majora; microcephaly; hypotonia; normal deep tendon reflexes; IQ=59; ophthalmologic exam in childhood revealed aniridia with rudimentary irides, bilateral exotropia, nystagmus, and foveal hypoplasia; glaucoma and bilateral subcapsular cataracts noted at age 4; no genitourinary tract abnormalities; familial chromosome translocation; father (GM10274), paternal half-brother(10272), and paternal grandmother also affected with aniridia and familial chromosome translocation; unaffected mother is GM10275; 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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