Distal Xq Duplication and Functional Xq Disomy
Author Information
Author(s): Damien Sanlaville, Caroline Schluth-Bolard, Catherine Turleau
Primary Institution: Hospices Civils de Lyon, Centre de Biologie et de Pathologie Est, Service de Cytogénétique Constitutionnelle, Lyon, France
Conclusion
Xq duplications are rare events that can lead to severe mental retardation, growth retardation, facial dysmorphism, genital hypoplasia, and recurrent infections.
Supporting Evidence
- About 40 cases of Xq functional disomy due to cytogenetically visible rearrangements have been reported.
- About 50 cases of cryptic duplications encompassing the MECP2 gene have been documented.
- Clinical manifestations vary depending on the gender and on the gene content of the duplicated segment.
Takeaway
Some people have extra pieces of their X chromosome, which can cause serious health problems, especially in boys.
Methodology
The study reviews clinical manifestations, genetic mechanisms, and diagnostic methods related to Xq duplications.
Limitations
The prevalence of Xq duplications is unknown, and many cases are not well documented.
Participant Demographics
The study discusses cases primarily in males, with some observations in females.
Digital Object Identifier (DOI)
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