Terminal Deletion of Chromosome 6q

Terminal Deletion of Chromosome 6q

Terminal deletions of chromosome 6q are rare. Clinical features associated with 6q terminal deletion syndrome include psychomotor retardation, seizures, hypotonia, short neck, and facial abnormalities, as well as various case-specific anomalies. Here, we describe a girl with 6q terminal deletion syn...

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Bibliographic Details
Main Authors: Pen-Hua Su, Jia-Yuh Chen, Suh-Jen Chen, Kai-Chi Yang
Format: Article
Language:English
Published: Elsevier 2008-06-01
Series:Pediatrics and Neonatology
Subjects:
chromosome 6q
deletion
psychomotor retardation
short stature
Online Access:http://www.sciencedirect.com/science/article/pii/S1875957208600194
Description
Summary:Terminal deletions of chromosome 6q are rare. Clinical features associated with 6q terminal deletion syndrome include psychomotor retardation, seizures, hypotonia, short neck, and facial abnormalities, as well as various case-specific anomalies. Here, we describe a girl with 6q terminal deletion syndrome and unusually short stature. Features of previously described patients are also summarized.
ISSN:1875-9572

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