X‐chromosomes attached by their long arm: case report and replication kinetics of the rearranged X‐chromosome

Petit, P; Koumans, J.; Berghe, Herman Van den

doi:10.1111/j.1399-0004.1982.tb01392.x

Cited by 6 publications

(1 citation statement)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…On the basis of these data and the fact that fertility has been observed in a number of patients with other Xchromosome deletions , it is not hypothetical to think that fertility could have been possible in this patient with Xqter+q23 monosomy. Phenotype-genotype correlations in patients with isodicentric X have already been extensively discussed by Petit et al (1982).…”

Section: Dlscusslonmentioning

confidence: 99%

Replication and inactivation of and isodicentric X: presence of an inactive centromere influences the replication patterns

1983

Self Cite

View full text Add to dashboard Cite

show abstract

Section: Dlscusslonmentioning

confidence: 99%

Replication and inactivation of and isodicentric X: presence of an inactive centromere influences the replication patterns

1983

Self Cite

View full text Add to dashboard Cite

show abstract

De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature

et al. 2006

View full text Add to dashboard Cite

We describe a 12-year-old patient, the second live born prenatally ascertained patient in the literature, with a de novo isodicentric X chromosome, karyotype 46,X,idic(X)(q24), with normal growth and development and lack of dysmorphic features. Molecular and cytogenetic studies were performed to further characterize the isodicentric chromosome X behavior. Literature on isodicentric X chromosomes with various breakpoints on Xq is reviewed and summarized.

show abstract

DNA replication study in a female infant with a karyotype of 45,X/46,X, psu dic(X) (p22::p22) and review of the literature

et al. 1987

View full text Add to dashboard Cite

SummaryA newborn female with anal atresia, duodenal perforation and mild Turner's stigmata was found to have a karyotype of 45,X/46,X, psu dic(X)(qter ~ p22::p22 ~ qter) in her lymphocytes. The rearranged chromosome had only one primary constriction and always demonstrated late replication. The constitutive heterochromatin at the pseudocentromeric region was C-band positive but Cd-band negative. Analysis of the DNA replication sequence in initiation by B-pulse methods in lymphocytes revealed a frequent asymmetric pattern and more than two types of sequence at both long arms of psu dic(X). The pattern of DNA replication did not relate to the position of the active centromere. The existence of replication variants by B-pulse method may merely indicates the occasional asynchronous start of segments in the distal long arm of X chromosome.

show abstract

X‐chromosomes attached by their long arm: case report and replication kinetics of the rearranged X‐chromosome

Abstract: A 16‐year‐old female with short stature, Turner syndrome stigmata, gonadal infantilism and 45,X/46,X, idic(X) (pter→ q21: q21 → pter) karyotype is reported. The replication kinetics of the abnormal X‐chromosome were studied.

Cited by 6 publications

References 5 publications

Replication and inactivation of and isodicentric X: presence of an inactive centromere influences the replication patterns

Replication and inactivation of and isodicentric X: presence of an inactive centromere influences the replication patterns

De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature

DNA replication study in a female infant with a karyotype of 45,X/46,X, psu dic(X) (p22::p22) and review of the literature

Contact Info

Product

Resources

About