A comprehensive screen for TWIST (ital) mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7-21.1

Article Abstract:

Identification of a new microdeletion syndrome of chromosome band 7-21.1 by use of a comprehensive screen for TWIST (ital) mutations in patients with craniosynostosis is discussed. A significant fraction of the cases of Saethre-Chotzen syndrome are the result of the microdeletion, and it seems that haploinsufficiency of genes close to TWIST (ital) contributes to developmental problems.

United Kingdom, Germany, Norway, Statistical Data Included, Usage, Diagnosis, Physiological aspects, Chromosome mapping, Genetic disorders, Mental retardation, Chromosome deletion, Craniofacial dysostosis

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Genome-wide analysis indicates more Asian than Melanesian ancestry of Polynesian

Article Abstract:

The origins of the autosomal gene pool of Polynesians are analyzed on a genome-wide scale and the results are compared with Chinese and Papua New Guinea individuals. Dual origin of Polynesians with a high East Asian and considerable Melanesian component reflects sex-biased admixture in Polynesian history.

Science & research, Natural history, Population genetics, Polynesians, Gene pool

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