Mosaic trachea in a child with trisomy 9 mosaicism

John Gniady, Glenn Isaacson, Roger Ladda

Research output: Contribution to journalArticle

1 Citation (Scopus)

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

Fingerprint

Mosaicism
Trachea
Karyotype
Cytogenetics
Phenotype
Trisomy mosaic Chromosome 9

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Otorhinolaryngology

Cite this

Gniady, John ; Isaacson, Glenn ; Ladda, Roger. / Mosaic trachea in a child with trisomy 9 mosaicism. In: International Journal of Pediatric Otorhinolaryngology. 2010 ; Vol. 74, No. 10. pp. 1193-1195.
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Mosaic trachea in a child with trisomy 9 mosaicism. / Gniady, John; Isaacson, Glenn; Ladda, Roger.

In: International Journal of Pediatric Otorhinolaryngology, Vol. 74, No. 10, 01.10.2010, p. 1193-1195.

Research output: Contribution to journalArticle

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