Ann Lab Med.  2016 Mar;36(2):191-193. 10.3343/alm.2016.36.2.191.

Isolated 9p Duplication With der(Y)t(Y;9)(q12;p13.2) in a Male Patient With Cardiac Defect and Mental Retardation Confirmed by Chromosomal Microarray

• Oh M
• Cho IJ
• Shin S
• Lee ST
• Choi JR

• KMID: 2373525
• DOI: http://doi.org/10.3343/alm.2016.36.2.191

Abstract

No abstract available.

MeSH Terms

Adult
Brain/diagnostic imaging
Bronchoscopy
*Chromosomes, Human, Pair 9
Death, Sudden, Cardiac/*etiology
Gene Duplication
Humans
Karyotyping
Male
Mental Disorders/*complications/genetics/pathology
Tomography, X-Ray Computed
Tracheomalacia/diagnostic imaging
Ventricular Fibrillation/complications

Figure

• 

  Fig. 1 G-banded karyotype and chromosomal microarray results of the patient. (A) G-banding revealed inserted material on the Y chromosome (red arrow). The karyotype was confirmed as 46,X,der(Y)(Ypter→Yq12::9p13.2→9pter) after microarray analysis. (B) The microarray results showed a duplication in the 9p24.3p13.2 (chr9:208,454-38,689,749) region (red arrow). Log2 value (blue dots) of 0.5 in the region represents a 3:2 copy number ratio of the test to the reference DNA.

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