Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

Article Abstract:

The relative expression levels of genes that map within the microdeletion that causes Williams-Beuren syndrome and within its flanking regions are measured. The results have indicated that not only the aneuploid genes but also the flanking genes that map several megabases away from a genomic rearrangement should be considered possible contributors to the phenotypic variation in genomic disorders.

Gene expression, Aneuploidy, Williams syndrome

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Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1

Article Abstract:

A genomewide linkage analysis is conducted using a 10K SNP array in a large consanguineous family (UR078) from the United Arab Emirates (UAE) who had split-hand/foot malformation with long-bone deficiency (SHFLD) disease transmission consistent with an autosomal dominant inheritance pattern. Two SHFLD phenotype susceptibility loci were identified at 1q42.2-q43 and 6q14.1 in this UAE family.

Bone diseases, Human chromosomes, Report

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Autosomal dominant nonsyndromic cleft lip and palate: Significant evidence of linkage at 18q21.1

Article Abstract:

A single-nucleotide-polymorphism (SNP) array is used for performing a genomewide linkage analysis of a large multigenerational family (UR410) with nonsyndromic cleft lip with or without cleft palate (NSCL/P). The results have identified a novel genomic region on chromosome 18q21.1, which harbors a high-risk variant for NSCL/P in this family.

United States, Linkage (Genetics), Cleft lip, Cleft palate

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