Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]

Jay W. Moore, Susan Hyman, S. E. Antonarakis, Emilie H. Mules, G. H. Thomas

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)297-302
Number of pages6
JournalHuman Genetics
Volume72
Issue number4
DOIs
StatePublished - Apr 1986

Fingerprint

Aniridia
Chromosomes, Human, Pair 22
Chromosomes, Human, Pair 11
Urogenital Abnormalities
Wilms Tumor
Restriction Mapping
Karyotype
Cytogenetics
Intellectual Disability
Glaucoma
Catalase
Cataract
Genes

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 journalArticle

Moore, Jay W. ; Hyman, Susan ; Antonarakis, S. E. ; Mules, Emilie H. ; Thomas, G. H. / Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]. In: Human Genetics. 1986 ; Vol. 72, No. 4. pp. 297-302.
@article{1e78b3263e424e5a841fce272fb6d4b4,
title = "Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]",
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.",
author = "Moore, {Jay W.} and Susan Hyman and Antonarakis, {S. E.} and Mules, {Emilie H.} and Thomas, {G. H.}",
year = "1986",
month = "4",
doi = "10.1007/BF00290952",
language = "English (US)",
volume = "72",
pages = "297--302",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Verlag",
number = "4",

}

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 -