1p36 deletion syndrome (also known as monosomy 1p36) is a - TopicsExpress

1p36 deletion syndrome (also known as monosomy 1p36) is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion. It is caused by the deletion of the most distal light band of the short arm of chromosome 1. Chromosome 1 is the largest human chromosome and represents about 8 percent of the total DNA in human cells.

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