AI Article Synopsis
- Chromosome 22q11.2 microdeletion is the most frequently occurring microdeletion syndrome, while mosaic forms of it are very rare, with only a few cases documented.
- A specific case is presented of a newborn with tetralogy of Fallot and absent pulmonary valve, associated with a mosaic 22q11.2 deletion.
- Genetic testing revealed that 66% of the neonate's lymphocyte nuclei had a hemizygous microdeletion at 22q11.2, but only the heart defect was evident in the child, without other symptoms associated with the syndrome.
Article 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.
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| http://dx.doi.org/10.1177/2150135114561686 | DOI Listing |
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