"Mosaic trachea" in a child with trisomy 9 mosaicism.
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.
Gniady
John P
JP
Department of Otolaryngology - Head & Neck Surgery, Temple University School of Medicine and the Division of Human Genetics, Growth & Development, United States.
Isaacson
Glenn
G
Ladda
Roger L
RL
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009030:Mosaicism; D014132:Trachea / Q000002:abnormalities*; D014314:Trisomy / Q000175:diagnosis*