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  • Title: "Mosaic trachea" in a child with trisomy 9 mosaicism.
    Author: Gniady JP, Isaacson G, Ladda RL.
    Journal: Int J Pediatr Otorhinolaryngol; 2010 Oct; 74(10):1193-5. PubMed ID: 20727599.
    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.
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