Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease.

Abstract excerpt

Fine mapping of chromosomal deletions and genotype-phenotype comparisons of clinically well-defined patients can be used to confirm or reveal loci and genes associated with human disorders. Eleven patients with cytogenetically visible deletions involving the terminal region of chromosome 5q have been described, but the extent of the deletion was determined only in one case. In this study we describe a 15-year-old...

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