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Mosaic 22q11.2 Deletion and Tetralogy of Fallot With Absent Pulmonary Valve
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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.
Title: Mosaic 22q11.2 Deletion and Tetralogy of Fallot With Absent Pulmonary Valve
Description:
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.
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