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A Patient with 22q11.2 Deletion Syndrome: Case Report
22q11 deletion is one of the most frequently encountered genetic syndromes. The phenotypic spectrum shows a wide variability. We report a boy who presented at age 11.9 years with seizures due to hypocalcemia as a result of hypoparathyroidism. FISH analysis revealed a heterozygote deletion at 22q11.2...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Galenos Publishing
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3005648/ https://ncbi.nlm.nih.gov/pubmed/21274400 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4008/jcrpe.v1i3.46 |
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