Deletion mapping by FISH with BACs in patients with partial monosomy 22q13 |
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| Authors: | K Schröder Simone Schuffenhauer Heide Seidel Oliver Bartsch Nikolaus Blin Georg Klaus Hinkel Holger Schmitt |
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| Institution: | (1) Division of Molecular Genetics, Institute of Anthropology & Human Genetics, Eberhard-Karls-University, Wilhelmstrasse 27, D-72074 Tübingen, Germany e-mail: kristina.schroeder@uni-tuebingen.de, Tel.: +49 7071 2978251, Fax: +49 7071 296409, DE;(2) Department of Medical Genetics, Kinderpoliklinik, Ludwig-Maximilians-University München, D-80336 Munich, Germany, DE;(3) Institute of Clinical Genetics, University Hospital Carl Gustav Carus, Technical University, D-01307 Dresden, Germany, DE |
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| Abstract: | Patients with deletions in 22q13 are known to have phenotypic features that include normal or accelerated growth, large hands
and feet, hypotonia, delayed psychomotor development and mild facial dysmorphism. To date, very few cases have been investigated
by detailed molecular genetic analysis. We have analyzed three new patients with terminal deletions in 22q. We compared the
cytogenetic observations with molecular data assessed by fluorescence in situ hybridization and an array of characterized
bacterial artificial chromosome recombinants. The shortest region of deletion overlap is localized in 22q13.2–qter distal
to the marker D22S94, but the telomeric repeat in the deleted chromosome appears to remain intact. When parental alleles were
investigated in two of the three patients, the aberrant homolog was found to be of paternal origin in both cases. Although
the deleted region still spans >20 cM, molecular analysis of additional patients and screening for new genes might help in
elucidating candidate genes connected with the dysmorphisms defined by deletions of 22q13.
Received: 14 August 1997 / Accepted: 27 January 1998 |
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