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1p36 Deletion Syndrome - Crossref

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Last Updated: 10 May 2022

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Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation

Deletion 1p36 syndrome is a newly diagnosed condition that is thought to be the most common subtelomeric microdeletion syndrome. If you're looking for a unique way of living. The condition is responsible for 0. 5% to 1. 2% of idiopathic mental retardation, and therefore, knowing about it is vital for pediatricians caring for such patients. Our aim was to delineate the natural history of deletion 1p36 and produce comprehensive and accurate data with which to answer families' questions in the clinical setting. We evaluated 60 patients with the 1p36 deletion syndrome. Seventy-one percent had heart abnormalities, including 23% in a “noncompaction cardiomyopathy. ” The majority of patients had eye/visual abnormalities, while 64% had visual impairment, and 64% had visual impairment. All patients showed developmental delay with poor/absent speech; 95% had hypotonia; 95% had hypotonia. These 60 patients with deletion 1p36 are the largest clinical study to date, and they all have data on several aspects of this disorder, which is characterized by neurodevelopmental disability and a regular pattern of malformation.

Source link: https://doi.org/10.1542/peds.2007-0929

* 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