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Clinical features of trisomy 12 mosaicism—Report and review

27 Mar 2017

Abstract excerpt

Trisomy 12 mosaicism is a rare condition. Herein, we report a patient with mosaic trisomy 12 who was conceived by in vitro fertilization. She presented with mild dysmorphic features at birth, including down-slanting palpebral fissures, a depressed and creased nasal bridge, and mild rhizomelic shortening of the limbs. She had age-appropriate development at 6 months of age, but displayed slightly more dysmorphic...

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PMID: 28345774
DOI: 10.1002/ajmg.a.38194

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