Terminal microdeletion of chromosome 18 in a Malaysian boy characterized with few features of typical 18q- deletion syndrome: a case report

Background: The 18q- deletion syndrome is a rare congenital chromosomal disorder caused by a partial deletion of the long arm of chromosome 18. The diagnosis of a patient with this syndrome relies on the family medical history, physical examination, developmental assessment, and cytogenetic findings...

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Bibliographic Details
Published in:Journal of Medical Case Reports
Main Author: Ismail A.; Ahid F.; Thong M.-K.; Zakaria Z.
Format: Article
Language:English
Published: BioMed Central Ltd 2023
Online Access:https://www.scopus.com/inward/record.uri?eid=2-s2.0-85163078984&doi=10.1186%2fs13256-023-03984-0&partnerID=40&md5=085ed90bc95270d3b8123b2f029c3391