A case of chromosome 22q11 deletion syndrome diagnosed in a 32-year-old man with hypoparathyroidism.

@article{Maalouf2004ACO,
  title={A case of chromosome 22q11 deletion syndrome diagnosed in a 32-year-old man with hypoparathyroidism.},
  author={Naim M. Maalouf and Khashayar Sakhaee and Clarita V. Odvina},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2004},
  volume={89 10},
  pages={4817-20}
}
Congenital hypoparathyroidism typically manifests with hypocalcemia with or without associated characteristic physical findings and is usually diagnosed during the neonatal period. This report describes an African-American male who was diagnosed at age 32 yr to have dysgenesis of the parathyroid glands due to chromosome 22 microdeletion. Symptomatic hypocalcemia did not develop until age 14 yr, a few weeks after initiation of anticonvulsant therapy for generalized tonic-clonic seizures. Because… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-9 of 9 extracted citations

Genetics of calcium homeostasis in humans: continuum between monogenic diseases and continuous phenotypes.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association • 2014
View 1 Excerpt

Similar Papers

Loading similar papers…