Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2000-11

AUTHORS

Mari Matsuo, Koji Muroya, Masanori Adachi, Katsuhiko Tachibana, Yumi Asakura, Yoshiko Nakagomi, Keiichi Hanaki, Susumu Yokoya, Atsuko Yoshizawa, Yutaka Igarashi, Kunihiko Hanew, Nobutake Matsuo, Tsutomu Ogata

ABSTRACT

. We report clinical and molecular findings in 15 Japanese mosaic females with r(X) chromosomes, 45,X/46,X,r(X), confirmed by fluorescence in situ hybridization (FISH) analysis for DXZ1 and whole X chromosome painting. Cases 1–3, 5–7, and 11–13 had mental retardation (MR), the remaining cases being free from MR. FISH analysis showed that XIST was absent from the r(X) chromosomes in cases 1–4 and was present on the r(X) chromosomes in cases 5–15. X-inactivation analysis for the methylation status of the AR gene indicated that, of eight cases with XIST-positive r(X) chromosomes in more than 10% (23%–62%) of lymphocytes (cases 5–12), cases 5–10 had selective X-inactivation, whereas cases 11 and 12 had active X disomy. Microsatellite analysis for multiple loci on the pericentromeric region revealed that, of 11 cases with r(X) chromosomes in more than 10% (13%–62%) of lymphocytes (cases 1, 2, and 4–12), cases 1, 2, and 5–10 had heterozygous alleles for at least one locus, whereas cases 4, 11, and 12 had single alleles for all the loci examined. The results suggest that the r(X) and normal X chromosomes could be of biparental or uniparental origin, and that mental status in females with r(X) chromosomes is determined by multiple factors, including the presence or absence of XIST on the r(X) chromosomes and the size and frequency of active r(X) chromosomes, in addition to co-incidental genetic and environmental factors. More... »

PAGES

433-439

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s004390000377

DOI

http://dx.doi.org/10.1007/s004390000377

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1005278529

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11140940


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