Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: Clinical and molecular characterization

Irene Madrigal, Miguel Fernández-Burriel, Laia Rodriguez-Revenga, Jose Carlos Cabrera, Milagros Martí, Antonio Mur, Montserrat Milà

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11 Citations (Scopus)


Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, hypopituitarism and a wide range of physical findings. We identified an inherited Xq26.2-Xq26.3 duplication in two brothers with severe mental retardation, hypotonia, growth delay, craniofacial disproportion and dental malocclusion. Chromosome analysis was normal and multiplex ligation-dependent probe amplification analysis detected duplication on Xq26. Further characterization by array comparative genomic hybridization and quantitative PCR helped to determine proximal and distal duplication breakpoints giving a size of approximately 2.8 Mb. The duplication encompasses 24 known genes, including the X-linked mental retardation genes ARHGEF6, PHF6, HPRT1 and SLC9A6. Clinical and molecular characterization of Xq duplications will shed more light into the phenotypic implication of functional disomy of X-chromosome genes. © 2010 The Japan Society of Human Genetics All rights reserved.
Original languageEnglish
Pages (from-to)822-826
JournalJournal of Human Genetics
Issue number12
Publication statusPublished - 1 Dec 2010


  • aCGH
  • HPRT1
  • intellectual disability
  • PHF6
  • SLC9A6
  • Xq26.2-q26.3 duplication


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