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Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion
Authors:Tzschach Andreas  Krause-Plonka Ines  Menzel Corinna  Knoblauch Andreas  Toennies Holger  Hoeltzenbein Maria  Radke Michael  Ropers Hans-Hilger  Kalscheuer Vera
Affiliation:Max Planck Institute for Molecular Genetics, Berlin, Germany. tzschach@molgen.mpg.de
Abstract:
Interstitial deletions of 10q are rare, and only one patient with a deletion confined to chromosome band 10q22 has been reported so far. We report on a 2 6/12-year-old girl with a constitutional interstitial deletion of one homologue of 10q [karyotype: 46,XX,del(10)(q22.2q22.3)de novo]. Our patient had muscular hypotonia, developmental delay, growth retardation, mild facial dysmorphism, and hypoplastic labia minora. The precise location and extent (3.6 Mb) of the deletion was determined by fluorescence in situ hybridization (FISH) using 16 YAC and BAC clones. The clinical features in our patient are remarkably similar to the previously reported patient with a 10q22.2 deletion.
Keywords:
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