Molecular-cytogenetic investigation of skewed chromosome X inactivation in Rett syndrome.

doi:10.1016/s0387-7604(01)00370-9

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Article

Molecular-cytogenetic investigation of skewed chromosome X inactivation in Rett syndrome.

Brain & development - 1 Dec 2001

Yurov Y B, Vorsanova S G, Kolotii A D, Iourov I Y

Abstract excerpt

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...

Topics

Adolescent
Child
Child, Preschool
DNA Mutational Analysis
Dosage Compensation, Genetic
Female
Humans
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Lymphocytes
Mutation
Rett Syndrome
X Chromosome

Source

Open in PubMed

Identifiers

PMID: 11738875
DOI: 10.1016/s0387-7604(01)00370-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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