Ann Lab Med.  2015 Mar;35(2):272-274. 10.3343/alm.2015.35.2.272.

A Korean Case of De Novo 18q Deletion Syndrome With a Large Atrial Septal Defect and Cyanosis

• Kim YJ
• Park TS
• Han MY
• Yoon HS
• Choi YS

• KMID: 2363195
• DOI: http://doi.org/10.3343/alm.2015.35.2.272

Abstract

No abstract available.

MeSH Terms

Asian Continental Ancestry Group/*genetics
Chromosome Deletion
Chromosome Disorders/complications/*diagnosis
Chromosomes, Human, Pair 18
Cyanosis/*etiology
Female
Heart Septal Defects, Atrial/complications/*diagnosis
Humans
Infant
Karyotyping
Republic of Korea

Figure

• 

  Fig. 1 Karyotype and array analyses of the present case. (A) The G-banded karyogram (550 band level) indicated 46,XX,del(18)(q22.1). (B) Array analysis indicated a 15-Mb (63,244,135-78,013,728) deletion in 18q22.1q23.

Reference

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