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Tetrasomy and pentasomy of the X chromosome

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Abstract

We describe a newborn girl with a life-threatening laryngomalacia and extreme hypotonia. Genetic analysis revealed the very rare genetic condition mosaicism of 48,XXXX and 49,XXXXX (50/50). We here state that the degree of early hypotonia constitutes an important early prognostic feature in this syndrome. The timely insertion of a gastrostomy is warranted in order to prevent aspiration. Conclusion: A karyotype is mandatory in female newborns with moderate to severe hypotonia in order to exclude polyploid mosaicism of the X chromosome. An ‘overall prognosis’ for 48,XXXX and 49,XXXXX girls is difficult to provide towards parents in line with a well-known, substantial variability in outcome for all polysomy X infants.

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Conflict of interest

Authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Stedelijk Ziekenhuis, Brugsesteenweg 90, 8800, Roeselare, Belgium

    Edith Schoubben, Karin Decaestecker, Koen Quaegebeur & Lode Danneels

  2. University Hospital Antwerp, Wilrijkstraat 10, 2650, Edegem, Belgium

    Geert Mortier

  3. AZ St. Jan Brugge-Oostende AV, Ruddershove 10, 8000, Bruges, Belgium

    Luc Cornette

Authors
  1. Edith Schoubben
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  2. Karin Decaestecker
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  3. Koen Quaegebeur
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  4. Lode Danneels
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  5. Geert Mortier
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  6. Luc Cornette
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Corresponding author

Correspondence to Edith Schoubben.

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Schoubben, E., Decaestecker, K., Quaegebeur, K. et al. Tetrasomy and pentasomy of the X chromosome. Eur J Pediatr 170, 1325–1327 (2011). https://doi.org/10.1007/s00431-011-1491-9

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  • DOI: https://doi.org/10.1007/s00431-011-1491-9

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