rearrangements: a resource for large scale genotype-phenotype delineation in man

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• Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres

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• Prader-Willi syndrome is caused by disruption of the SNRPN gene.

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• Refining the genetic diagnostic puzzle: A case report on a Chinese ARPKD patient with a reciprocal balanced translocation and c.2507 T > C (p.V836A) in PKHD1

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• A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

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• A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

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• Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing

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• Down Syndrome Resulting from a Rare non-Robertsonian Translocation t(11;21)(p13;q22)

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• The establishment and application of preimplantation genetic haplotyping in embryo diagnosis for reciprocal and Robertsonian translocation carriers

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• Balanced Autosomal Translocations in Two Women Reporting Recurrent Miscarriage.

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• Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

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• Send Orders of Reprints at Reprints@benthamscience.org on the Structural Plasticity of the Human Genome: Chromosomal Inver- Sions Revisited

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