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22q11.2 deletion syndrome is thought to be almost as common as Down syndrome. So why haven’t you heard of it? Until recently, this syndrome had many different names since the underlying cause was unknown. Now we know it results from a missing section of chromosome 22. A key to early diagnosis of 22q is prenatal genetic screening. Natera’s Panorama prenatal screen can provide parents with their first steps towards the early detection of genetic conditions so they can prepare.
Antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related to MTHFR gene C677T and A1298C heterozygous mutations in a young man with idiopathic hypoparathyroidism (DiGeorge syndrome) — Italian Ministry of Health