Τίτλος:
Proximal 10q duplication in a child with severe central hypotonia characterized by array- comparative genomic hybridization: A case report and review of the literature
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Proximal 10q duplication is a well- defined but rare genetic syndrome. Duplication of proximal segments of the long arm of chromosome 10 results in a pattern of malformations, which are distinct from those of the more common distal 10q trisomy syndrome. The present study describes the case of a boy with phenotypic abnormalities (severe central hypotonia, mild ataxia, moderate developmental delay and mild dysmorphic features), due to duplication of chromosome region, 10q11.21→q11.22, which was characterized by the array- comparative genomic hybridization (CGH) technique. The phenotypic findings were compared with those in eight additional similar published cases. Major similarities have emerged, suggesting a likely minimal critical region. However, only detailed characterization of additional cases may provide firm conclusions.
Συγγραφείς:
Manolakos, E.
Vetro, A.
Garas, A.
Thomaidis, L.
Kefalas, K.
Kitsos, G.
Ziegler, M.
Liehr, T.
Zuffardi, O.
Papoulidis, I.
Περιοδικό:
Experimental and Therapeutic Medicine
Λέξεις-κλειδιά:
article; case report; child; comparative genomic hybridization; corpus callosum agenesis; cryptorchism; cytogenetics; face malformation; fluorescence in situ hybridization; genetic disorder; human; karyotyping; male; muscle hypotonia; nuclear magnetic resonance imaging; physiotherapy; preschool child; proximal 10q duplication; rating scale; speech therapy
DOI:
10.3892/etm.2014.1520
