====== Chromosome 21 ======

===== Chromosome 21 in neurosurgery =====


{{rss>https://pubmed.ncbi.nlm.nih.gov/rss/search/1J9m0S5PiOKkPlH0azlvZEljfdbgFHdwu0ksIflocd0yFZkoPD/?limit=15&utm_campaign=pubmed-2&fc=20230721060308}}
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[[Chromosome]] 21 is one of the 23 pairs of chromosomes in humans. Chromosome 21 is both the smallest human autosome and chromosome, with 48 million [[base pair]]s (the building material of DNA) representing about 1.5 percent of the total DNA in cells. Most people have two copies of chromosome 21, while those with three copies of chromosome 21 have [[Down syndrome]], also called "trisomy 21".
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In Down syndrome children, functional [[constipation]] and lower [[urinary tract infection]]s have been described, together with higher risk for [[incontinence]] and delayed sphincter control. At present, no clear association between Down syndrome, Bladder Bowel Dysfunction and [[neural tube defect]]s has been previously described.

Onesimo et al. describe two female patients with Down syndrome presenting Bladder Bowel Dysfunction in association with neural tube defects, who both underwent personalized multidisciplinary intervention and pelvic floor rehabilitation, with good clinical outcomes.

At present, no screening program has been established in order to rule out neural tube defects or neurogenic urinary anomalies in Down syndrome patients presenting bowel and/or bladder dysfunction. In our opinion, presence of spinal abnormalities, despite rare, may be contribute to urinary symptoms and should be ruled out in patients presenting progressive or persistent Bladder Bowel Dysfunction. Early diagnosis and management of spinal cord defects associated with neurogenic urinary dysfunction may allow to prevent possible complications
((Onesimo R, Agazzi C, Massimi L, Giorgio V, Leoni C, Zampino G, Rendeli C. Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature. Ital J Pediatr. 2023 Jul 20;49(1):89. doi: 10.1186/s13052-023-01412-z. PMID: 37475046.))