Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1

Article Abstract:

Research has determined the critical deletion regions associated with congenital heart defects. Genotype-phenotype correlations were discovered through a process involving classic cytogenetics and polymorphic DNA marker analysis, using unrelated subjects who have chromosome 8p distal region deletions. All deletions were found to be interstitial, with breakpoints determining additional manifestations such as microcephaly and retardation.

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Renpenning syndrome maps to Xp11

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Renpenning syndrome is a form of X-linked mental retardation affecting men in a Mennonite family in Canada. Molecular techniques indicate that the syndrome maps to Xp11.2-p11.4. The maximum LOD score was obtained for markers between DXS1039 and DXS1068. This region overlaps localizations of other X-linked mental retardation syndromes. Phenotypically, Renpenning syndrome most closely resembles Sutherland-Haan syndrome.

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Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

Article Abstract:

The article discusses the submicroscopic copy-number imbalances of different genes that sever genetic diseases in humans. The results show that the duplications of the hydroxysteroid dehydrogenase HSD17810 and the E3 ubiquitin ligase HUWE1 majorly contribute to the onset of mental retardation in patients.

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