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Title
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Tetrasomy and pentasomy of the X chromosome
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Author
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Abstract
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| 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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Language
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English
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Source (journal)
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European journal of pediatrics. - Berlin, 1975, currens
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Publication
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Berlin
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2011
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ISSN
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0340-6199
[print]
1432-1076
[online]
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DOI
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10.1007/S00431-011-1491-9
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Volume/pages
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170
:10
(2011)
, p. 1325-1327
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ISI
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000294960000013
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Full text (Publisher's DOI)
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Full text (publisher's version - intranet only)
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