Broadening the Phenotypic Range of Xq28 Duplications Involving MECP2: A Case Study from a Family - Takeaways - MDSpire

Broadening the Phenotypic Range of Xq28 Duplications Involving MECP2: A Case Study from a Family

  • By

  • Katerina Gaberova

  • Iliyana Hristova Pacheva

  • Ralitsa Yordanova

  • Tihomir Todorov

  • Albena Todorova

  • Liliyana Grozdanova

  • Margarita Panova

  • Mariyana Georgieva

  • Ivan Stefanov Ivanov

  • April 22, 2026

  • 0 min

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  • 1

    Xq28 duplication syndrome is linked to X-linked intellectual disability, affecting gene dosage and causing neurodevelopmental disorders.

  • 2

    The study describes a family with three individuals affected by Xq28 duplication, highlighting severe phenotypic variability.

  • 3

    Affected males exhibited profound intellectual disability and multiple neurological impairments, while the mother showed milder symptoms.

  • 4

    The presence of additional genes in the Xq28 region may contribute to the variability in clinical presentations among affected individuals.

  • 5

    Xq28 duplication syndrome emphasizes the impact of gene dosage alterations on developmental pathways and neural function.

Original Source(s)

Broadening the Phenotypic Range of Xq28 Duplications Involving MECP2: A Case Study from a Family

  • by Katerina Gaberova, Iliyana Hristova Pacheva, Ralitsa Yordanova, Tihomir Todorov, Albena Todorova, Liliyana Grozdanova, Margarita Panova, Mariyana Georgieva, Ivan Stefanov Ivanov

  • April 22, 2026

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