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22q112 Deletion Syndrome - MedlinePlus Genetics

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Last Updated: 02 July 2022

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22q11.2 deletion syndrome

The deletion of a tiny piece of chromosome 22. 2 deletion syndrome is a condition exacerbated by the deletion of a small piece of chromosome 22. 2 deletion syndrome. 22q11. 2 deletion syndrome is a disorder that can affect virtually every organ of the body. People with the 22q11. 2 deletion syndrome have heart abnormalities that are often present from birth, recurrent infections related to inflammation of the immune system, and specific facial features. Even though the tissue covering them does not close completely, the muscles that make the roof of the mouth do not close completely, resulting in a condition called submucosal cleft palate in affected individuals. The submucosal cleft palate can also interfere with normal speech by causing air to come out of the nose during speech, resulting in nasal-sounding speech. People affected by asthma, kidney abnormalities, low calcium levels in the blood, a decrease in blood platelets, severe feeding difficulties, digestive difficulties, and hearing loss are all typical problems. Some children with 22q11. 2 deletion syndrome have developmental delays, including delayed growth and speech development, and others have mild intellectual impairment or learning difficulties. Additionally, children with 22q11. 2 deletion syndrome are more likely than children without this syndrome to have attention-deficit/hyperactivity disorder and developmental disorders that influence communication and social interaction. Since the signs and symptoms of 22q11. 2 deletion syndrome are so numerous, several subgroups of features were once thought of as separate disorders. In addition, some children with the 22q11. 2 deletion were diagnosed with Opitz G/BBB syndrome and Cayler cardiofacial syndrome.

Source link: https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions