Abstract
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.
Keywords
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© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
