Microduplication of 3p26.3 Implicated in Cognitive Development
Joint Authors
Mazzaschi, Roberto L. P.
Maikoo, Raj
Zhang, Liangtao
Te Weehi, Leah
George, Alice M.
Mc Cormack, Adrian
Love, Donald R.
Ashton, Fern
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-02-13
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
We report here a 34-month-old boy with global developmental delay referred for molecular karyotyping and fragile X studies.
Molecular karyotype analysis revealed a microduplication in the 3p26.3 region involving part of the CHL1 and CNTN6 genes.
Several deletions, one translocation, and one duplication have previously been described in this region of chromosome 3.
The CHL1 gene has been proposed as a dosage-sensitive gene with a central role in cognitive development, and so the microduplication reported here appears to be implicated in our patient’s phenotype.
American Psychological Association (APA)
Te Weehi, Leah& Maikoo, Raj& Mc Cormack, Adrian& Mazzaschi, Roberto L. P.& Ashton, Fern& Zhang, Liangtao…[et al.]. 2014. Microduplication of 3p26.3 Implicated in Cognitive Development. Case Reports in Genetics،Vol. 2014, no. 2014, pp.1-6.
https://search.emarefa.net/detail/BIM-461222
Modern Language Association (MLA)
Te Weehi, Leah…[et al.]. Microduplication of 3p26.3 Implicated in Cognitive Development. Case Reports in Genetics No. 2014 (2014), pp.1-6.
https://search.emarefa.net/detail/BIM-461222
American Medical Association (AMA)
Te Weehi, Leah& Maikoo, Raj& Mc Cormack, Adrian& Mazzaschi, Roberto L. P.& Ashton, Fern& Zhang, Liangtao…[et al.]. Microduplication of 3p26.3 Implicated in Cognitive Development. Case Reports in Genetics. 2014. Vol. 2014, no. 2014, pp.1-6.
https://search.emarefa.net/detail/BIM-461222
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-461222
