Microduplication of 3p26.3 Implicated in Cognitive Development-Reference-Cited by-同舟云学术

Microduplication of 3p26.3 Implicated in Cognitive Development

Published:2014 Issue: Volume:2014 Page:1-6
ISSN:2090-6544
Container-title:Case Reports in Genetics
language:en
Short-container-title:Case Reports in Genetics

Author:

Te Weehi Leah¹,Maikoo Raj²,Mc Cormack Adrian¹,Mazzaschi Roberto¹,Ashton Fern¹,Zhang Liangtao¹,George Alice M.¹,Love Donald R.¹³

Affiliation:

1. Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand

2. Pediatrics Department, Middlemore Hospital, Private Bag 93311, Auckland 1640, New Zealand

3. School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland 1142, New Zealand

Abstract

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 theCHL1andCNTN6genes. Several deletions, one translocation, and one duplication have previously been described in this region of chromosome 3. TheCHL1gene 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.

Publisher

Hindawi Limited

Subject

General Medicine

Link

http://downloads.hindawi.com/journals/crig/2014/295359.pdf

Reference22 articles.

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4. Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome

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