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Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B

✍ Scribed by P. Balestrazzi; M. A. Baeteman; M. G. Mattei; J. F. Mattei

Book ID
104701197
Publisher
Springer
Year
1983
Tongue
English
Weight
874 KB
Volume
64
Category
Article
ISSN
0340-6717

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✦ Synopsis

We report a previously undescribed case of a de novo balanced translocation t(5;13)(q11;p11) and Franceschetti syndrome in a 3-year-old girl. The hypothesis that this unusual association might not be coincidental but rather due to position effect is proposed. Moreover the significant decrease of hexosaminidase B activity suggests the localization of this gene on the 5q11 band.

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