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Case Reports
. 1983;64(3):305-8.
doi: 10.1007/BF00279420.

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

P Balestrazzi, M A Baeteman, M G Mattei, J F Mattei
Case Reports

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

P Balestrazzi et al. Hum Genet. 1983.

Abstract

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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References

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