Article
Further delineation of the 22q13 deletion syndrome.
Clinical dysmorphology - 1 Apr 2005
Lindquist S G, Kirchhoff M, Lundsteen C, Pedersen W, Erichsen G, Kristensen K, Lillquist K, Smedegaard H H, Skov L, Tommerup N, Brøndum-Nielsen K
Abstract excerpt
A chromosomal deletion syndrome associated with a 22q13 microdeletion has previously been reported in approximately 75 children. We report six cases from Denmark with a deletion of 22q13. One was cytogenetically visible by conventional karyotyping, one was diagnosed by high resolution karyotyping after the demonstration of low arylsulfatase A activity. Two were diagnosed by high resolution CGH analysis, one was...
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