Description:
ANIRIDIA 1; AN1
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Ophthalmologic Disorders |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
3
|
|
Relation to Proband
|
father
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XY,t(11;22)(11qter>11p13::22q11.2 or 12.2>22qter;22pter>22q11.2 or 12.2:: 11p13>11pter)pat
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
6 |
| |
| 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 |
| |
| Cytogenetics |
Chromosome 11: TRANSLOCATION Breakpoint 11p13 t(11;22)11p13 |
|
Chromosome 22: TRANSLOCATION Breakpoint 22q11 t(11;22)22q11 |
|
Chromosome 22: TRANSLOCATION Breakpoint 22q12 t(11;22)22q12 |
| Remarks |
Clinically affected; aniridia; glaucoma; cataracts; no genitourinary tract abnormalities; normal intelligence; familial chromosome translocation; mother, son (GM10272) and daughter (GM10273) also affected with aniridia and familial chromosome translocation; seven family members in 4 generations affected with aniridia but karyotype unknown; spouse is GM10275. |
| Davis LM, Stallard R, Thomas GH, Couillin P, Junien C, Nowak NJ, Shows TB, Two anonymous DNA segments distinguish the Wilms' tumor and aniridia loci. Science241:840-2 1988 |
| PubMed ID: 2841760 |
| |
| 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 |
| Passage Frozen |
6 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|