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 language||English (US)|
|Number of pages||3|
|Journal||International Journal of Pediatric Otorhinolaryngology|
|State||Published - Oct 1 2010|
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health