Mosaic 22q11.2 deletion and tetralogy of Fallot with absent pulmonary valve: an unreported association

Prabhu, Sudesh, Jenny, Bryan, James, Harraway and Provenzano, Sylvio (2015) Mosaic 22q11.2 deletion and tetralogy of Fallot with absent pulmonary valve: an unreported association. World Journal for Pediatric and Congenital Heart Surgery, 6 2: 342-345. doi:10.1177/2150135114561686


Author Prabhu, Sudesh
Jenny, Bryan
James, Harraway
Provenzano, Sylvio
Title Mosaic 22q11.2 deletion and tetralogy of Fallot with absent pulmonary valve: an unreported association
Journal name World Journal for Pediatric and Congenital Heart Surgery   Check publisher's open access policy
ISSN 2150-136X
2150-1351
Publication date 2015-04-01
Sub-type Article (original research)
DOI 10.1177/2150135114561686
Open Access Status Not Open Access
Volume 6
Issue 2
Start page 342
End page 345
Total pages 4
Place of publication Thousand Oaks, CA, United States
Publisher Sage Publications
Collection year 2016
Language eng
Abstract Chromosome 22q11.2 microdeletion is the most common microdeletion syndrome. Mosaic 22q11.2 deletions are very rare and only a few have been reported. We describe a case of a neonate with tetralogy of Fallot with absent pulmonary valve with mosaic 22q11.2 deletion. Fluorescent in situ hybridization analysis of lymphocytes showed a hemizygous 22q11.2 microdeletion in 66% of interphase nuclei. Microarray testing confirmed a 1.66 Mb deletion at 22q11.2. The child did not have any clinical manifestations of 22q11.2 deletion other than the cardiac malformation.
Keyword 22q11.2 deletion
Absent pulmonary valve
Mosaicism
Tetralogy of Fallot
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2016 Collection
School of Medicine Publications
 
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