Expansion of the Deletion 13q Syndrome Phenotype: A Case Report
Identifieur interne : 006661 ( Istex/Curation ); précédent : 006660; suivant : 006662Expansion of the Deletion 13q Syndrome Phenotype: A Case Report
Auteurs : Eboni I. Lance [États-Unis] ; Barbara R. Dupont [États-Unis] ; Kenton R. HoldenSource :
- Journal of Child Neurology [ 0883-0738 ] ; 2007-09.
Abstract
The phenotypic description of deletion 13q syndrome is dependent on the location and size of the deleted segment. At present, the syndrome is divided into 3 groups based on the deletion's location relative to chromosomal band 13q32. Groups 1 (proximal to q32) and 2 (including q32) have shown distinctive phenotypes including mental retardation and growth deficiency, whereas group 3 (q33-34 deletion) is defined by the presence of mental retardation but usually the absence of major malformations. The authors report an 8-year-old Hispanic female with dysmorphic facial features, microcephaly, moderate to severe mental retardation, and uncontrolled epilepsy associated with a terminal 13q33.3 deletion. These features expand the characterization of the phenotype associated with group 3 of the 13q deletion syndrome to include major clinical manifestations. This case report will contribute to more accurate genetic counseling as well as may help identify more individuals with this syndrome.
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DOI: 10.1177/0883073807306257
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Kenton R. Holden<affiliation><mods:affiliation>E-mail: kholden@ggc.org</mods:affiliation><wicri:noCountry code="no comma">E-mail: kholden@ggc.org</wicri:noCountry></affiliation>Le document en format XML
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At present, the syndrome is divided into 3 groups based on the deletion's location relative to chromosomal band 13q32. Groups 1 (proximal to q32) and 2 (including q32) have shown distinctive phenotypes including mental retardation and growth deficiency, whereas group 3 (q33-34 deletion) is defined by the presence of mental retardation but usually the absence of major malformations. The authors report an 8-year-old Hispanic female with dysmorphic facial features, microcephaly, moderate to severe mental retardation, and uncontrolled epilepsy associated with a terminal 13q33.3 deletion. These features expand the characterization of the phenotype associated with group 3 of the 13q deletion syndrome to include major clinical manifestations. This case report will contribute to more accurate genetic counseling as well as may help identify more individuals with this syndrome.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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