Molecular determination of X inactivation pattern correlates with phenotype in women with a structurally abnormal X chromosome

Genetics in Medicine

Volumn 2, Issue 2, 2000, Pages 136-141

  Wolff, D J ^a   Schwartz, S ^a   Carrel, L ^a  

^a MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

Aberrant phenotype; Abnormal X chromosome; Phenotype correlation; X inactivation

Indexed keywords

ANDROGEN RECEPTOR;

ARTICLE; CHROMOSOME DELETION X; CHROMOSOME DUPLICATION; CHROMOSOME POLYMORPHISM; CHROMOSOME TRANSLOCATION X; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION FUNCTION; DISOMY; FEMALE; GENE; GENETIC PROCEDURES; GENETIC SCREENING; HUMAN; MENTAL DEFICIENCY; PHENOTYPE; TURNER SYNDROME; X CHROMOSOME ABERRATION; X CHROMOSOME INACTIVATION;

EID: 0034528936     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200003000-00004     Document Type: Article

References (33)

1. Gene action in the X-chromosome of the mouse (Mus musculus L)
2. The sex chromosomes and X-chromosome inactivation
3. Epigenetic and chromosomal control of gene expression: Molecular and genetic analysis of X chromosome inactivation
4. Genetic control of X inactivation and processes leading to X-inactivation skewing
5. A promoter mutation in the XIST gene in two unrelated families with skewed X inactivation
6. Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome
7. Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation
8. Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the α-galactosidase A gene
9. Skewed X-chromosome inactivation in female carriers of Dyskeratosis Congenita
10. X-autosome translocations: Cytogenetic characteristics and their consequences
11. DNA replication and inactivation patterns in structural abnormality of sex chromosomes. I. X-A translocations, rings, fragments, isochromosomes, and pseudo-isodicentrics
12. Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: A review of 122 cases
13. X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: Evidence for functional disomy of Xp
14. DNA methylation and the control of gene expression on the human X chromosome
15. Cytogenetics of human X/autosome translocations
16. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
17. An assay for X inactivation based on differential methylation at the Fragile X locus, FMR1
18. Direct detection of non-random X chromosome inactivation by use of transcribed polymorphism in the XIST gene
19. Heterogeneous gene expression from the inactive X chromosome: An X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others
20. X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes
21. Random X inactivation in a female with a balanced t(X;9) and an abnormal phenotype
22. Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern
23. The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation
24. Late replication in an X-autosome translocation in the mouse: Correlation with genetic inactivation and evidence for selective effects during embryogenesis
25. Genetic tests with a sex-linked marker: Glucose-6-phosphate dehydrogenase
26. Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X: Autosome translocation
27. Familial dup(5)(q15q21) associated with normal and abnormal phenotypes
28. Duplication 14(q24.3q31) in a father and daughter: Delineation of a possible imprinted region
29. Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype
30. Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation
31. Small marker X chromosomes lack the X inactivation center: Implications for karyotype/phenotype correlations
32. Molecular characterization of tiny ring X chromosomes from females with functional X chromosome disomy and lack of cis X inactivation
33. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox