PMID- 10766981
OWN - NLM
STAT- MEDLINE
DCOM- 20000608
LR  - 20111117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 91
IP  - 4
DP  - 2000 Apr 10
TI  - Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: 
      analysis of the X-inactivation patterns.
PG  - 267-72
AB  - We report on a mother and daughter both with a 45,X/46,X,r(X)(p22. 3q28) 
      karyotype and mental retardation. Fluorescence in situ hybridization (FISH) and 
      microsatellite analyses for 14 loci/region at Xp22.3 and seven loci/region at 
      Xq28 indicated that the ring X chromosome was missing a roughly 12-Mb region from 
      Xp22.3 with the breakpoint between DXS85 and DXS9972, and another region of less 
      than 100 kb from Xq28 with the breakpoint distal to the region defined by the 
      FISH probe c8.2/1. X-inactivation analysis, using the methylation status of the 
      AR gene (exon 1) as an indicator, showed that the normal and ring X chromosomes 
      in the X,r(X)(p22.3q28) cell lineage were randomly inactivated. The Xp22.3 
      deleted region partially overlaps with the regional intervals of MRX19, MRX21, 
      MRX24, MRX37, MRX43, and MRX49 associated with heterozygote manifestation. 
      Therefore, it is likely that one or more of these MRX genes, subject to 
      X-inactivation, are lost from the ring X chromosome, and that reduced expression 
      of the MRX gene(s) caused by random X-inactivation has resulted in mental 
      retardation in the mother and daughter.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Matsuo, M
AU  - Matsuo M
AD  - Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
FAU - Muroya, K
AU  - Muroya K
FAU - Nanao, K
AU  - Nanao K
FAU - Hasegawa, Y
AU  - Hasegawa Y
FAU - Terasaki, H
AU  - Terasaki H
FAU - Kosaki, K
AU  - Kosaki K
FAU - Ogata, T
AU  - Ogata T
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Adult
MH  - Chromosome Deletion
MH  - *Dosage Compensation, Genetic
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Intellectual Disability/diagnosis/*genetics
MH  - Karyotyping
MH  - Male
MH  - Microsatellite Repeats
MH  - Pregnancy
MH  - Ring Chromosomes
MH  - X Chromosome/*genetics
RF  - 26
EDAT- 2000/04/15 09:00
MHDA- 2000/06/10 09:00
CRDT- 2000/04/15 09:00
PHST- 2000/04/15 09:00 [pubmed]
PHST- 2000/06/10 09:00 [medline]
PHST- 2000/04/15 09:00 [entrez]
AID - 10.1002/(SICI)1096-8628(20000410)91:4<267::AID-AJMG5>3.0.CO;2-J [pii]
PST - ppublish
SO  - Am J Med Genet. 2000 Apr 10;91(4):267-72.