A clinical, cytogenetic and molecular study of 47 females with r(X) chromosomes

Annals of Human Genetics

Volumn 64, Issue 4, 2000, Pages 277-293

  Dennis, N ^a   Coppin, B ^a   Turner, C ^a   Skuse, D ^a   Jacobs, P ^a  

^a PRINCESS ANNE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; CHILD; CYTOGENETICS; DOSAGE COMPENSATION, GENETIC; EDEMA; FEMALE; HUMANS; KARYOTYPING; MALE; MOSAICISM; PARENTS; PHENOTYPE; RING CHROMOSOMES; RNA, UNTRANSLATED; TRANSCRIPTION FACTORS; TURNER SYNDROME; X CHROMOSOME; DOSAGE COMPENSATION (GENETICS); HUMAN; SUPPORT, NON-U.S. GOV'T;

ARTICLE; CLINICAL ARTICLE; CYTOGENETICS; DISOMY; EDEMA; FEMALE; GENETIC VARIABILITY; HUMAN; MOSAICISM; PHENOTYPE; PRIORITY JOURNAL; RING CHROMOSOME; X CHROMOSOME;

EID: 0033786952     PISSN: 00034800     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0003480000008162     Document Type: Article

References (30)

1. Methylation of HpaII and Hha sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
2. Mental retardation and Ullrich-Turner syndrome in cases with 45, X/46, X, + mar: Additional support for the loss of the inactivation center hypothesis
3. A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45, X patients
4. Three patients with ring X chromosomes and a severe phenotype
5. Characterization of a small supernumerary ring X fhromosome by fluorescence in situ hybridization
6. Social, communicational, and behavioural deficits associated with the ring X Turner syndrome
7. Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for Turner syndrome
8. 45, X/46, X, r(X) can have a distinct phenotype different from Ullrich-Turner syndrome
9. Prune-Belly syndrome and other anomalies in a stillborn fetus with a ring (X) chromosome lacking XIST
10. Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms
11. Turner syndrome: A cytogenetic and molecular study
12. A study of females with deletions of the short arm of the X-chromosome
13. Molecular characterization of tiny ring X chromosomes from females with functional X chromosome disomy and lack of cis X inactivation
14. 45, X/46, X, r(X) with syndactyly and severe mental retardation
15. Cytogenetic and molecular characterization of marker chromosomes in cases with mosaic 45, X karyotypes
16. Ring chromosome X in a child with manifestations of Kabuki synchrome
17. The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation
18. Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes
19. Lack of X-inactivation associated with maternal X isodisomy: Evidence for a counting mechanism prior to X inactivation during human embryogenesis
20. A simple salting out procedure for extracting DNA from human nucleated cells
21. Chromosomal and clinical findings in 110 females with Turner syndrome
22. Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females
23. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization
24. Absence of the XIST gene from late-replicating isodicentric X chromosomes in leukaemia
25. Xp deletions associated with autism in three females
26. Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype
27. Mental retardation in Turner syndrome
28. Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation
29. Fluorochrome-labelled tyramides: Use in immunocytochemistry and fluorescence in situ hybridisation
30. Small marker X chromosomes lack the X inactivation centre: Implications for karyotype/phenotype correlations