During the last quarter of the twentieth century, our knowledge about human genetic
variation was limited mainly to the heterochromatin polymorphisms, large enough to be …

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

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 …

Background Whole-genome sequencing may revolutionize medical diagnostics through
rapid identification of alleles that cause disease. However, even in cases with simple …

Abstract Chromosome region 1q21. 1 contains extensive and complex low-copy repeats,
and copy number variants (CNVs) in this region have recently been reported in association …

Background Deletion and the reciprocal duplication in 16p11. 2 were recently associated
with autism and developmental delay. Method We indentified 27 deletions and 18 …

Complex genomic rearrangements (CGRs) consisting of two or more breakpoint junctions
have been observed in genomic disorders. Recently, a chromosome catastrophe …

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare,
neonatally lethal developmental disorder of the lung with defining histologic abnormalities …

The duplication 17p11. 2 syndrome, associated with dup (17)(p11. 2p11. 2), is a recently
recognized syndrome of multiple congenital anomalies and mental retardation and is the …

The clinical implementation of array comparative genomic hybridization has revolutionized
the diagnosis of patients with syndromic or nonsyndromic mental retardation. Multiple …