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Article

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

American journal of human genetics - 1 Apr 1999

Edelmann L, Pandita R K, Morrow B E

Abstract excerpt

Velo-cardio-facial syndrome (VCFS) is the most common microdeletion syndrome in humans. It occurs with an estimated frequency of 1 in 4, 000 live births. Most cases occur sporadically, indicating that the deletion is recurrent in the population. More than 90% of patients with VCFS and a 22q11 deletion have a similar 3-Mb hemizygous deletion, suggesting that sequences at the breakpoints confer susceptibility to...

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Identifiers

PMID: 10090893
DOI: 10.1086/302343
PMCID: PMC1377832

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