An increasing number of human diseases are recognized to result from recurrent DNA
rearrangements involving unstable genomic regions. These are termed genomic disorders …

The sequence of chromosome 21 was a turning point for the understanding of Down
syndrome. Comparative genomics is beginning to identify the functional components of the …

Mutations in the factor VIII gene have been discovered for barely more than half of the
examined cases of severe haemophilia A. To account for the unidentified mutations, we …

Molecular medicine began with Pauling's seminal work, which recognized sickle-cell
anemia as a molecular disease, and with Ingram's demonstration of a specific chemical …

Rearrangements of our genome can be responsible for inherited as well as sporadic traits.
The analyses of chromosome breakpoints in the proximal short arm of Chromosome 17 …

Compared with other mammals, the genomes of humans and other primates show an
enrichment of large, interspersed segmental duplications (SDs) with high levels of sequence …

During the last two decades, the importance of human genome copy number variation
(CNV) in disease has become widely recognized. However, much is not understood about …

Abstract Peripheral myelin protein-22 (PMP22) is primarily expressed in the compact myelin
of the peripheral nervous system. Levels of PMP22 have to be tightly regulated since …

PRDM9 has recently been identified as a likely trans regulator of meiotic recombination hot
spots in humans and mice,,. PRDM9 contains a zinc finger array that, in humans, can …

▪ Abstract Cytogenetic imbalance in the newborn is a frequent cause of mental retardation
and birth defects. Although aneuploidy accounts for the majority of imbalance, structural …