Deletions of Chromosome 15 as a Cause of the Prader–Willi Syndrome

Ledbetter, David H.; Riccardi, Vincent M.; Airhart, Susan D.; Strobel, Richard J.; Keenan, Bruce S.; Crawford, John D.

doi:10.1056/nejm198102053040604

Cited by 574 publications

(265 citation statements)

References 17 publications

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“…86,107,108 Deletions account for 65-75% of the individuals with PWS. The majority of individuals with deletions have one of two common proximal breakpoints (BP1 or BP2) and a common distal breakpoint (BP3).…”

Section: Paternal Deletionmentioning

confidence: 99%

Prader-Willi syndrome

Cassidy

Schwartz

Miller

et al. 2012

Genetics in Medicine

1,135

1,193

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Section: Paternal Deletionmentioning

confidence: 99%

Prader-Willi syndrome

Cassidy

Schwartz

Miller

et al. 2012

Genetics in Medicine

1,135

1,193

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“…It had been known for some years that a tiny deletion in 15q11 -q13 was a frequent cause of PWS. 89 Sometime later, it appeared that such a deletion would cause two distinct syndromes, AS versus PWS, when affecting, respectively, the maternal or paternal chromosome 15. 90 It was now being seen that the paternal counterpart for UPD15 mat also confirmed this dichotomy, by causing AS, not PWS.…”

Section: Partmentioning

confidence: 99%

A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements

2006

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“…Structural changes of certain chromosomal segments were first associated with several human genetic disorders in the early 1980s, such as Prader-Willi syndrome at 15q11-q13 (Ledbetter et al 1981) and DiGeorge syndrome at 22q11 (de la Chapelle et al 1981). Different terms (e.g., contiguous gene, microdeletion, contiguous deletion, and segmental aneusomy) were given to describe these and other syndromes later associated with a specific structural change of a chromosome, including the more apt term, genomic disorder (Lupski 1998).…”

mentioning

confidence: 99%

Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic Disorders

Ji¹,

Eichler²,

Schwartz³

et al. 2000

Genome Res.

231

158

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Chromosome-specific low-copy repeats, or duplicons, occur in multiple regions of the human genome. Homologous recombination between different duplicon copies leads to chromosomal rearrangements, such as deletions, duplications, inversions, and inverted duplications, depending on the orientation of the recombining duplicons. When such rearrangements cause dosage imbalance of a developmentally important gene(s), genetic diseases now termed genomic disorders result, at a frequency of 0.7–1/1000 births. Duplicons can have simple or very complex structures, with variation in copy number from 2 to >10 repeats, and each varying in size from a few kilobases in length to hundreds of kilobases. Analysis of the different duplicons involved in human genomic disorders identifies features that may predispose to recombination, including large size and high sequence identity between the recombining copies, putative recombination promoting features, and the presence of multiple genes/pseudogenes that may include genes expressed in germ cells. Most of the chromosome rearrangements involve duplicons near pericentromeric regions, which may relate to the propensity of such regions to accumulate duplicons. Detailed analyses of the structure, polymorphic variation, and mechanisms of recombination in genomic disorders, as well as the evolutionary origin of various duplicons will further our understanding of the structure, function, and fluidity of the human genome.

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Deletions of Chromosome 15 as a Cause of the Prader–Willi Syndrome

Cited by 574 publications

References 17 publications

Prader-Willi syndrome

Prader-Willi syndrome

A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements

Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic Disorders

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