PMID- 11140940 OWN - NLM STAT- MEDLINE DCOM- 20010118 LR - 20221207 IS - 0340-6717 (Print) IS - 0340-6717 (Linking) VI - 107 IP - 5 DP - 2000 Nov TI - Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development. PG - 433-9 AB - 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. FAU - Matsuo, M AU - Matsuo M AD - Department of Pediatrics, Tokyo Women's Medical University, Japan. FAU - Muroya, K AU - Muroya K FAU - Adachi, M AU - Adachi M FAU - Tachibana, K AU - Tachibana K FAU - Asakura, Y AU - Asakura Y FAU - Nakagomi, Y AU - Nakagomi Y FAU - Hanaki, K AU - Hanaki K FAU - Yokoya, S AU - Yokoya S FAU - Yoshizawa, A AU - Yoshizawa A FAU - Igarashi, Y AU - Igarashi Y FAU - Hanew, K AU - Hanew K FAU - Matsuo, N AU - Matsuo N FAU - Ogata, T AU - Ogata T LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Germany TA - Hum Genet JT - Human genetics JID - 7613873 SB - IM MH - Adolescent MH - Adult MH - Asian People/genetics MH - Centromere/genetics MH - Child MH - Child, Preschool MH - Chromosome Mapping MH - Female MH - Genetic Carrier Screening MH - Genomic Imprinting MH - Humans MH - In Situ Hybridization, Fluorescence MH - Intellectual Disability/*genetics MH - Japan MH - Karyotyping MH - Lymphocytes MH - Male MH - Microsatellite Repeats MH - Mosaicism/*genetics MH - Pedigree MH - *Ring Chromosomes MH - *X Chromosome EDAT- 2001/01/05 11:00 MHDA- 2001/02/28 10:01 CRDT- 2001/01/05 11:00 PHST- 2001/01/05 11:00 [pubmed] PHST- 2001/02/28 10:01 [medline] PHST- 2001/01/05 11:00 [entrez] AID - 10.1007/s004390000377 [doi] PST - ppublish SO - Hum Genet. 2000 Nov;107(5):433-9. doi: 10.1007/s004390000377.