Today’s guest post on genetic syndromes comes from Lauren Laur, who is contributing a post on the 22q11.2 Deletion Syndrome.
22q11.2 Deletion Syndrome is a syndrome of many names. Also known as Velocardiofacial Syndrome, Shprintzen syndrome as well as DiGeorge Syndrome, 22q11.2 Deletion Syndromeis is caused by a microdeletion on the long arm of chromosome 22 (at location marker q11.2). This syndrome follows an autosomal dominant inheritance pattern (a child only needs to get the abnormal gene from one parent in order to inherit the disease), however, only around 10% of cases are inherited; the majority of cases are due to a random mutation. Continue reading Spotlight on Syndromes: An SLPs Perspective on 22q Deletion Syndrome
Today’s guest post on genetic syndromes comes from Amy Locy, who is contributing an informative piece on the Treacher Collins Syndrome (TCS). TSC occurs in 1 out of every 50,000 live births with 40% of children born with TCS having a family member with the syndrome. TCS is distributed equally across genders and races. It can often occur in conjunction with the Pierre Robin Sequence. 
Today I am excited to introduce to you the new series which will be featured on my blog and will be written by myself as well as numerous knowledgeable contributing authors. It is an SLP’s perspective on genetic syndromes.