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Balanced structural changes involving the human X: Effect on sexual phenotype
Reports of 107 cases (89 females and 18 males) with balanced X-autosome translocations and 11 cases with pericentric inversions (and their families)...
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Chromosomes in the Cornelia de Lange syndrome
This paper summarizes previous chromosomal studies in patients with the Cornelia de Lange syndrome showing abnormal karyotypes. We report on 45 cases...
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Map** the Human Genome, Cloned Genes, DNA Polymorphisms, and Inherited Disease
It is estimated that the human haploid genome is composed of 3 × 109 nucleotides and that only 10% of it consists of coding and regulatory...