Publication
Title
Tetrasomy and pentasomy of the X chromosome
Author
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.
Language
English
Source (journal)
European journal of pediatrics. - Berlin
Publication
Berlin : 2011
ISSN
0340-6199
Volume/pages
170:10(2011), p. 1325-1327
ISI
000294960000013
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 19.12.2011
Last edited 07.09.2017
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