Article
Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation.
European journal of human genetics : EJHG - 1 Jan 2007
Brenk Christian H, Prott Eva-Christina, Trost Detlef, Hoischen Alexander, Walldorf Constanze, Radlwimmer Bernhard, Wieczorek Dagmar, Propping Peter, Gillessen-Kaesbach Gabriele, Weber Ruthild G, Engels Hartmut
Abstract excerpt
Molecular karyotyping holds the promise of improving genotype-phenotype correlations for frequent chromosome conditions such as the 18p- syndrome. In spite of more than 150 reported cases with deletions in 18p, no reliable phenotype map for the characteristic clinical findings such as mental retardation, post-natal growth retardation and typical facial features has been established yet. Here, we report on four...
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