Abstract
Isolated aniridia segregated as an autosomal dominant trait in a family with 11 affected members spanning five generations. Four of the eight individuals studied had aniridia associated with glaucoma and cataracts. Cytogenetic studies revealed an apparently balanced reciprocal translocation between chromosomes 11 and 22 [t(11;22)(p13;q12.2)], while four unaffected relatives had normal karyotypes. There is no evidence of Wilms tumor or genitourinary abnormalities in any members of the family. Restriction enzyme analysis of the human catalase gene revealed no abnormalities in the individuals with the translocation. A summary of phenotypic abnormalities in 61 cases associated with aniridia is presented, as well as a comparison of breakpoints in 44 cases of 11p deletion. These data indicate that single breaks at 11p13 are associated with isolated aniridia, while deletion of 11p13 results in aniridia combined with Wilms tumor, genitourinary abnormalities, and/or mental retardation.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 297-302 |
| Number of pages | 6 |
| Journal | Human Genetics |
| Volume | 72 |
| Issue number | 4 |
| DOIs | |
| State | Published - Apr 1986 |
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ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]. / Moore, Jay W.; Hyman, Susan; Antonarakis, S. E.; Mules, Emilie H.; Thomas, G. H.
In: Human Genetics, Vol. 72, No. 4, 04.1986, p. 297-302.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]
AU - Moore, Jay W.
AU - Hyman, Susan
AU - Antonarakis, S. E.
AU - Mules, Emilie H.
AU - Thomas, G. H.
PY - 1986/4
Y1 - 1986/4
N2 - Isolated aniridia segregated as an autosomal dominant trait in a family with 11 affected members spanning five generations. Four of the eight individuals studied had aniridia associated with glaucoma and cataracts. Cytogenetic studies revealed an apparently balanced reciprocal translocation between chromosomes 11 and 22 [t(11;22)(p13;q12.2)], while four unaffected relatives had normal karyotypes. There is no evidence of Wilms tumor or genitourinary abnormalities in any members of the family. Restriction enzyme analysis of the human catalase gene revealed no abnormalities in the individuals with the translocation. A summary of phenotypic abnormalities in 61 cases associated with aniridia is presented, as well as a comparison of breakpoints in 44 cases of 11p deletion. These data indicate that single breaks at 11p13 are associated with isolated aniridia, while deletion of 11p13 results in aniridia combined with Wilms tumor, genitourinary abnormalities, and/or mental retardation.
AB - Isolated aniridia segregated as an autosomal dominant trait in a family with 11 affected members spanning five generations. Four of the eight individuals studied had aniridia associated with glaucoma and cataracts. Cytogenetic studies revealed an apparently balanced reciprocal translocation between chromosomes 11 and 22 [t(11;22)(p13;q12.2)], while four unaffected relatives had normal karyotypes. There is no evidence of Wilms tumor or genitourinary abnormalities in any members of the family. Restriction enzyme analysis of the human catalase gene revealed no abnormalities in the individuals with the translocation. A summary of phenotypic abnormalities in 61 cases associated with aniridia is presented, as well as a comparison of breakpoints in 44 cases of 11p deletion. These data indicate that single breaks at 11p13 are associated with isolated aniridia, while deletion of 11p13 results in aniridia combined with Wilms tumor, genitourinary abnormalities, and/or mental retardation.
UR - http://www.scopus.com/inward/record.url?scp=0022549183&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0022549183&partnerID=8YFLogxK
U2 - 10.1007/BF00290952
DO - 10.1007/BF00290952
M3 - Article
C2 - 3754537
AN - SCOPUS:0022549183
VL - 72
SP - 297
EP - 302
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 4
ER -