Ring X and other structural X chromosome abnormalities: X inactivation and phenotype.
Identifieur interne : 009976 ( Main/Exploration ); précédent : 009975; suivant : 009977Ring X and other structural X chromosome abnormalities: X inactivation and phenotype.
Auteurs : K A Leppig [États-Unis] ; C M DistecheSource :
- Seminars in reproductive medicine [ 1526-8004 ] ; 2001.
Descripteurs français
- KwdFr :
- ARN long non codant, ARN non traduit (génétique), Aberrations des chromosomes sexuels, Chromosome X (génétique), Chromosomes en anneau, Compensation de dosage génétique, Duplication de gène, Délétion de segment de chromosome, Facteurs de transcription (génétique), Femelle, Humains, Inversion chromosomique, Phénotype, Syndrome de Turner (génétique), Translocation génétique (génétique).
- MESH :
- génétique : ARN non traduit, Chromosome X, Facteurs de transcription, Syndrome de Turner, Translocation génétique.
- ARN long non codant, Aberrations des chromosomes sexuels, Chromosomes en anneau, Compensation de dosage génétique, Duplication de gène, Délétion de segment de chromosome, Femelle, Humains, Inversion chromosomique, Phénotype.
English descriptors
- KwdEn :
- Chromosome Deletion, Chromosome Inversion, Dosage Compensation, Genetic, Female, Gene Duplication, Humans, Phenotype, RNA, Long Noncoding, RNA, Untranslated (genetics), Ring Chromosomes, Sex Chromosome Aberrations, Transcription Factors (genetics), Translocation, Genetic (genetics), Turner Syndrome (genetics), X Chromosome (genetics).
- MESH :
- chemical , genetics : RNA, Untranslated, Transcription Factors.
- chemical : RNA, Long Noncoding.
- genetics : Translocation, Genetic, Turner Syndrome, X Chromosome.
- Chromosome Deletion, Chromosome Inversion, Dosage Compensation, Genetic, Female, Gene Duplication, Humans, Phenotype, Ring Chromosomes, Sex Chromosome Aberrations.
Abstract
Patients who carry a structural abnormality of the X chromosome are a fascinating group who have provided opportunities to evaluate genotype/phenotype correlation in relation to X chromosome content and inactivation. Turner syndrome (TS) is most commonly associated with a 45,X karyotype and presents with an array of phenotypes, the main ones being poor viability in utero, ovarian failure and infertility, short stature, lymphedema, and other congenital malformations but usually not mental retardation. In some TS patients the karyotype shows both a normal X and a structurally rearranged X chromosome. These structural abnormalities, which include deletions, duplications, inversions, translocations, and rings, are associated with chromosome breaks and significant imbalance of gene content of the X chromosome. However, such abnormalities are generally well tolerated because of the preferential inactivation of the abnormal X, which can restore, at least in part, a balanced genetic makeup. This beneficial effect of X inactivation results in a mild phenotype in most patients with structural abnormalities of the X, similar to that found in TS patients with a 45,X karyotype. However, in cases of ring X chromosomes and of X/autosome translocations the incidence of mental retardation and other congenital abnormalities can be significantly higher than in TS. These abnormal phenotypes can be ascribed to failed or partial X inactivation and/or incomplete selection in favor of cells with normal balance of gene expression. In this article, we present phenotype/genotype correlation in female patients with structural abnormalities of the X and address the role of X inactivation and cell selection in the phenotypic findings. Our review emphasizes a subset of rare patients with ring X chromosomes who have provided evidence of a direct role for X inactivation in determining phenotypes.
DOI: 10.1055/s-2001-15395
PubMed: 11480912
Affiliations:
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Le document en format XML
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<term>Chromosome Inversion</term>
<term>Dosage Compensation, Genetic</term>
<term>Female</term>
<term>Gene Duplication</term>
<term>Humans</term>
<term>Phenotype</term>
<term>RNA, Long Noncoding</term>
<term>RNA, Untranslated (genetics)</term>
<term>Ring Chromosomes</term>
<term>Sex Chromosome Aberrations</term>
<term>Transcription Factors (genetics)</term>
<term>Translocation, Genetic (genetics)</term>
<term>Turner Syndrome (genetics)</term>
<term>X Chromosome (genetics)</term>
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<keywords scheme="KwdFr" xml:lang="fr"><term>ARN long non codant</term>
<term>ARN non traduit (génétique)</term>
<term>Aberrations des chromosomes sexuels</term>
<term>Chromosome X (génétique)</term>
<term>Chromosomes en anneau</term>
<term>Compensation de dosage génétique</term>
<term>Duplication de gène</term>
<term>Délétion de segment de chromosome</term>
<term>Facteurs de transcription (génétique)</term>
<term>Femelle</term>
<term>Humains</term>
<term>Inversion chromosomique</term>
<term>Phénotype</term>
<term>Syndrome de Turner (génétique)</term>
<term>Translocation génétique (génétique)</term>
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<term>Transcription Factors</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Translocation, Genetic</term>
<term>Turner Syndrome</term>
<term>X Chromosome</term>
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<term>Facteurs de transcription</term>
<term>Syndrome de Turner</term>
<term>Translocation génétique</term>
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<term>Chromosome Inversion</term>
<term>Dosage Compensation, Genetic</term>
<term>Female</term>
<term>Gene Duplication</term>
<term>Humans</term>
<term>Phenotype</term>
<term>Ring Chromosomes</term>
<term>Sex Chromosome Aberrations</term>
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<term>Aberrations des chromosomes sexuels</term>
<term>Chromosomes en anneau</term>
<term>Compensation de dosage génétique</term>
<term>Duplication de gène</term>
<term>Délétion de segment de chromosome</term>
<term>Femelle</term>
<term>Humains</term>
<term>Inversion chromosomique</term>
<term>Phénotype</term>
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<front><div type="abstract" xml:lang="en">Patients who carry a structural abnormality of the X chromosome are a fascinating group who have provided opportunities to evaluate genotype/phenotype correlation in relation to X chromosome content and inactivation. Turner syndrome (TS) is most commonly associated with a 45,X karyotype and presents with an array of phenotypes, the main ones being poor viability in utero, ovarian failure and infertility, short stature, lymphedema, and other congenital malformations but usually not mental retardation. In some TS patients the karyotype shows both a normal X and a structurally rearranged X chromosome. These structural abnormalities, which include deletions, duplications, inversions, translocations, and rings, are associated with chromosome breaks and significant imbalance of gene content of the X chromosome. However, such abnormalities are generally well tolerated because of the preferential inactivation of the abnormal X, which can restore, at least in part, a balanced genetic makeup. This beneficial effect of X inactivation results in a mild phenotype in most patients with structural abnormalities of the X, similar to that found in TS patients with a 45,X karyotype. However, in cases of ring X chromosomes and of X/autosome translocations the incidence of mental retardation and other congenital abnormalities can be significantly higher than in TS. These abnormal phenotypes can be ascribed to failed or partial X inactivation and/or incomplete selection in favor of cells with normal balance of gene expression. In this article, we present phenotype/genotype correlation in female patients with structural abnormalities of the X and address the role of X inactivation and cell selection in the phenotypic findings. Our review emphasizes a subset of rare patients with ring X chromosomes who have provided evidence of a direct role for X inactivation in determining phenotypes.</div>
</front>
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