Ann Lab Med.  2016 Mar;36(2):194-196. 10.3343/alm.2016.36.2.194.

An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis

• Yoon JG
• Shin S
• Jung JW
• Lee ST
• Choi JR

• KMID: 2373526
• DOI: http://doi.org/10.3343/alm.2016.36.2.194

Abstract

No abstract available.

MeSH Terms

Abnormalities, Multiple/*genetics/pathology
*Chromosomes, Human, Pair 14
Clubfoot/*genetics/pathology
Female
Gene Duplication
Heart Defects, Congenital/*genetics/pathology
Humans
Infant, Newborn
Karyotype
Oligonucleotide Array Sequence Analysis

Figure

• 

  Fig. 1 G-banding chromosome analysis showed a duplication in the proximal segment of the long arm of chromosome 14 (indicated by red brackets).

• 

  Fig. 2 Microarray analysis of chromosome 14 showed an 18.3-Mb duplication in the 14q11.2q21.1 (20,516,277-38,826,881) region (indicated by the blue bar).

Reference

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