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

Affiliations
  • 1Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. saeam0304@yuhs.ac, LEE.ST@yuhs.ac
  • 2Division of Pediatric Cardiology, Department of Pediatrics, Severance Cardiovascular Hospital, Yonsei University College of Medicine, Seoul, Korea.

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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