Ann Lab Med.  2015 Mar;35(2):275-278. 10.3343/alm.2015.35.2.275.

First Korean Case of SATB2-Associated 2q32-q33 Microdeletion Syndrome

• Yu N
• Shin S
• Lee KA

• KMID: 2363196
• DOI: http://doi.org/10.3343/alm.2015.35.2.275

Abstract

No abstract available.

MeSH Terms

Asian Continental Ancestry Group/*genetics
Child
Chromosome Disorders/*diagnosis
*Chromosomes, Human, Pair 2
Gene Deletion
Humans
Male
Matrix Attachment Region Binding Proteins/*genetics
Multiplex Polymerase Chain Reaction
Republic of Korea
Transcription Factors/*genetics
Matrix Attachment Region Binding Proteins
Transcription Factors

Figure

• 

  Fig. 1 Chromosomal microarray profile of chromosome 2. (A) The whole chromosome 2 view shows copy number loss in the 2q32.3-33.1 region. Blue dots with a log2 value of -1 represent a 1:2 copy number ratio of the test to reference genomic DNA, indicating a heterozygous deletion (arrow). The expansion view of the 2q32-33 region revealed a 7.5-Mb heterozygous interstitial deletion in chr2:194,402,946-201,865,887 (including SATB2 gene). Bars represent the deletion sizes in the current case and other 2q32-q33 microdeletion syndrome cases. (B) MLPA analysis (red: control, blue: patient) results show heterozygous deletion of SATB2 gene on 2q33.1 (arrows), rsa 2q33.1×1.Abbreviation: MLPA, Mutiplex ligation-dependent probe amplification.

Reference

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