Short report
5p14 deletion associated with microcephaly and seizures
Elizabeth I Johnsona, R Catrinel Marinescua, Hope H Punnettb, Beverly Tenenholzc, Joan Overhausera
a Department of
Biochemistry and Molecular Pharmacology, Thomas Jefferson University,
Philadelphia, PA 19107-5541, USA, b St Christopher's
Hospital for Children, Philadelphia, PA, USA, c Penn State Geisinger Medical Center, Danville,
PA, USA
Correspondence to: Dr Overhauser
Revised version received 24 March 1999;
Accepted for publication 1 September 1999
We report on a father and son who have an interstitial deletion
of 5p14. The father is clinically and mentally normal while the son has
significant clinical involvement including microcephaly, seizures, and
global developmental delay. The extent of the 5p14 deletion was
determined using fluorescence in situ hybridisation (FISH). The
deletion in this present family is smaller than a deletion previously
described in a multigenerational family that lacks any clinical
phenotype. This report shows that a 5p14 deletion does not always lead
to a normal phenotype.
Keywords: interstitial deletion; chromosome 5; fluorescence in situ hybridisation; cri du chat syndrome
© 2000 by J Med Genet
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