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Mendeley readers
| Title |
Mosaic 22q11.2 Deletion and Tetralogy of Fallot With Absent Pulmonary Valve
|
|---|---|
| Published in |
World Journal for Pediatric and Congenital Heart Surgery, April 2015
|
| DOI | 10.1177/2150135114561686 |
| Pubmed ID | |
| Authors |
Sudesh Prabhu, Bryan Jenny, Harraway James, Sylvio Provenzano |
| 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. |
Mendeley readers
The data shown below were compiled from readership statistics for 7 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 7 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Doctoral Student | 2 | 29% |
| Student > Bachelor | 1 | 14% |
| Student > Master | 1 | 14% |
| Unknown | 3 | 43% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 3 | 43% |
| Unknown | 4 | 57% |