20p chromosome inverted duplication syndrome with phenotypes of congenital heart disease, anorectal malformation and megacolon.

Abstract excerpt

20p chromosome inverted duplication deletion syndrome is a rare chromosomal disorder in which the short arm segment 20p11.2-p13 and the deleted subtopic region 20p13-20 replicate simultaneously. Patients with this syndrome are mainly presented with intellectual disability and motor development delay. We report here a middle childhood case of this syndrome characterised by intellectual disability, backward...

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