'Mosaic trachea' in a child with trisomy 9 mosaicism
| Autor: | John P. Gniady, Roger L. Ladda, Glenn Isaacson |
|---|---|
| Rok vydání: | 2010 |
| Předmět: |
Pathology
medicine.medical_specialty Mosaicism Infant Newborn Karyotype Trisomy General Medicine Anatomy Biology medicine.disease Trisomy 9 Human genetics Trachea Trisomy 9 mosaicism Otorhinolaryngology Pediatrics Perinatology and Child Health Tissue mosaicism medicine Humans Abnormalities Multiple Female Chromosomes Human Pair 9 |
| Zdroj: | International journal of pediatric otorhinolaryngology. 74(10) |
| ISSN: | 1872-8464 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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