Mosaic trachea in a child with trisomy 9 mosaicism

John P. Gniady, Glenn Isaacson, Roger L. Ladda

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Abstract

Humans with mosaic karyotypes may present with milder forms of birth defects than one would see in non-mosaic individuals. Mosaicism may also affect tissues, resulting in different parts of an organ manifesting varied phenotypes. We present the case of a child born with mosaic trisomy 9 and multiple congenital anomalies. Her trachea displays segmental abnormalities that suggest tissue mosaicism. We describe the endoscopic and cytogenetic findings in this child and propose a possible genetic mechanism to account for the unusual malformations.

Original languageEnglish (US)
Pages (from-to)1193-1195
Number of pages3
JournalInternational Journal of Pediatric Otorhinolaryngology
Volume74
Issue number10
DOIs
StatePublished - Oct 1 2010

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All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Otorhinolaryngology

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