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Article

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.

American journal of human genetics - 12 Mar 2010

Zhang Feng, Potocki Lorraine, Sampson Jacinda B, Liu Pengfei, Sanchez-Valle Amarilis, Robbins-Furman Patricia, Navarro Alicia Delicado, Wheeler Patricia G, Spence J Edward, Brasington Campbell K, Withers Marjorie A, Lupski James R

Abstract excerpt

Nonallelic homologous recombination (NAHR) can mediate recurrent rearrangements in the human genome and cause genomic disorders. Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS) are genomic disorders associated with a 3.7 Mb deletion and its reciprocal duplication in 17p11.2, respectively. In addition to these common recurrent rearrangements, an uncommon recurrent 5 Mb SMS-associated deletion has...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20188345
DOI: 10.1016/j.ajhg.2010.02.001
PMCID: PMC2833368

Genes

AHR
SMS
RAI1

Provenance

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