PMID- 11738875
OWN - NLM
STAT- MEDLINE
DCOM- 20020313
LR  - 20220331
IS  - 0387-7604 (Print)
IS  - 0387-7604 (Linking)
VI  - 23 Suppl 1
DP  - 2001 Dec
TI  - Molecular-cytogenetic investigation of skewed chromosome X inactivation in Rett 
      syndrome.
PG  - S214-7
AB  - We have developed an approach to differentiate homologous X chromosomes in 
      metaphase chromosomes and interphase nuclei by a fluorescence in situ 
      hybridization (FISH) technique with chromosome X-specific alpha-satellite DNA 
      probe. FISH analysis of metaphase chromosomes in a cohort of 33 girls with Rett 
      syndrome (RTT) allowed us to detect eight girls with structurally different X 
      chromosomes, one X chromosome with a large and another one with a small 
      centromeric heterochromatin (so-called chromosomal heteromorphism). Step-wise 
      application of differential replication staining and the FISH technique to 
      identify the inactivation status of paternal and maternal chromosome X in RTT 
      girls was applied. Skewed X inactivation in seven RTT girls with preferential 
      inactivation of one X chromosome over the other X chromosome was detected in 
      62-93% of cells. Therefore, non-random or skewed X inactivation with variable 
      penetrance in blood cells could take place in RTT.
FAU - Yurov, Y B
AU  - Yurov YB
AD  - National Centre of Mental Health, Russian Academy of Medical Sciences, 113152, 
      Zagorodnoe sh. 2, Moscow, Russia. yurov@rcmh.msk.ru
FAU - Vorsanova, S G
AU  - Vorsanova SG
FAU - Kolotii, A D
AU  - Kolotii AD
FAU - Iourov, I Y
AU  - Iourov IY
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Netherlands
TA  - Brain Dev
JT  - Brain & development
JID - 7909235
SB  - IM
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - DNA Mutational Analysis/*methods
MH  - *Dosage Compensation, Genetic
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Infant
MH  - Infant, Newborn
MH  - Lymphocytes/cytology
MH  - Mutation/*genetics
MH  - Rett Syndrome/blood/*genetics
MH  - X Chromosome/*genetics
EDAT- 2001/12/12 10:00
MHDA- 2002/03/14 10:01
CRDT- 2001/12/12 10:00
PHST- 2001/12/12 10:00 [pubmed]
PHST- 2002/03/14 10:01 [medline]
PHST- 2001/12/12 10:00 [entrez]
AID - S0387760401003709 [pii]
AID - 10.1016/s0387-7604(01)00370-9 [doi]
PST - ppublish
SO  - Brain Dev. 2001 Dec;23 Suppl 1:S214-7. doi: 10.1016/s0387-7604(01)00370-9.