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Article

Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism

29 Jun 2007

Abstract excerpt

Patau syndrome (trisomy 13) is very rare in live-born babies. Individuals with this chromosomal syndrome have a short lifespan and are rarely seen beyond infancy. This study is aimed at the clinical spectrum, natural history, and survival of patients with trisomy 13. We reviewed the detailed data of 13 Patau syndrome live-born babies. Among them two individuals were delivered from continuation of pregnancy even...

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Identifiers

PMID: 17603803
DOI: 10.1002/ajmg.a.31835

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