PMID- 8168835
OWN - NLM
STAT- MEDLINE
DCOM- 19940602
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 93
IP  - 5
DP  - 1994 May
TI  - Skewed inactivation of an X chromosome deleted at the dystrophin gene in an 
      asymptomatic mother and her affected daughter.
PG  - 563-7
AB  - A girl with severe Becker muscular dystrophy and apparently normal chromosomes 
      had a heterozygous deletion for exons 51, 52, and 53 of the dystrophin gene. This 
      deletion was transmitted by her mother, who was unaffected. To differentiate the 
      normal and the deleted X chromosomes, fluorescence in situ hybridization (FISH) 
      was applied to metaphase chromosomes, using probes for both exons 51 and 52, 
      which are only 388 and 113 base pairs long, respectively. FISH signals were 
      observed in one or both chromatids of one chromosome, but never on both 
      chromosomes, suggesting the lack of hybridization on the deleted X chromosome. 
      Using 5-bromodeoxyuridine incorporation to differentiate the late (inactive) and 
      the early replicating (active) X chromosomes, 77% of the signals were observed on 
      the active X chromosomes in the mother. This percentage was only 18% in the 
      daughter, suggesting that skewed inactivation of the X chromosomes was 
      responsible for the phenotypic differences.
FAU - Tihy, F
AU  - Tihy F
AD  - Universite de Montreal, Departement de Pathologie, Faculte de Medecine, Canada.
FAU - Vogt, N
AU  - Vogt N
FAU - Recan, D
AU  - Recan D
FAU - Malfoy, B
AU  - Malfoy B
FAU - Leturcq, F
AU  - Leturcq F
FAU - Coquet, M
AU  - Coquet M
FAU - Serville, F
AU  - Serville F
FAU - Fontan, D
AU  - Fontan D
FAU - Guillard, J M
AU  - Guillard JM
FAU - Kaplan, J C
AU  - Kaplan JC
AU  - et al.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Dystrophin)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Blotting, Western
MH  - *Chromosome Deletion
MH  - Cytogenetics
MH  - DNA/analysis
MH  - *Dosage Compensation, Genetic
MH  - Dystrophin/*genetics/metabolism
MH  - Exons/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Muscles/metabolism
MH  - Muscular Dystrophies/*genetics/metabolism
MH  - Phenotype
MH  - Sex Chromosome Aberrations/*genetics
MH  - *X Chromosome
EDAT- 1994/05/01 00:00
MHDA- 1994/05/01 00:01
CRDT- 1994/05/01 00:00
PHST- 1994/05/01 00:00 [pubmed]
PHST- 1994/05/01 00:01 [medline]
PHST- 1994/05/01 00:00 [entrez]
AID - 10.1007/BF00202824 [doi]
PST - ppublish
SO  - Hum Genet. 1994 May;93(5):563-7. doi: 10.1007/BF00202824.