06
Oct
1q31.2 Deletion (Hyperparathyroidism-Jaw Tumor Syndrome)
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1q31.2 Deletion (Hyperparathyroidism-Jaw Tumor Syndrome) Deletions of the 1q31.2 segment results in a condition called Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT). HPT-JT is characterized by parathyroid tumors, ossifying fibromas of the jaw bones, kidney lesions, and uterine lesions1. These features can be attributed to the deletion of the CDC73 gene, which is... Read More
06
Oct
Chromosome 12q12 Deletion
12q12 Deletion Deletions of the q12 segment on the long arm of chromosome 12 cause a variety of clinical features, with the most common being neurodevelopmental concerns and other delays1. Individuals with 12q12 deletions frequently have some extent of neurodevelopmental delays. Neurological concerns include hypotonia (68%), psychomotor delays (68%), speech... Read More
06
Oct
A20 Haploinsufficiency and 6q23 Deletion
A20 Haploinsufficiency and 6q23 Deletion A20 haploinsufficiency is an auto inflammatory disease with involvement of multiple organs1. This condition is caused by defective function of the TNFAIP3 gene, located at the long arm of chromosome 6 (6q23). Although most cases of A20 haploinsufficiency are caused by mutations of this gene,... Read More
