- Mosaic Ring Chromosome 6 in an Infant with Significant Patent Ductus Arteriosus and Multiple Congenital Anomalies
-
Lee SJ, Han DK, Cho HJ, Cho YK, Ma JS
- KMID: 1714209
- J Korean Med Sci.
- 2012 Aug;27(8):948-952.
- doi: 10.3346/jkms.2012.27.8.948
The clinical features of ring chromosome 6 include central nervous system anomalies, growth retardation, facial dysmorphism and other congenital anomalies. Ring chromosome 6 occurs rarely and manifests as various phenotypes.... -
- CITED
-
- Close
- SHARE
-
- Close
- First Korean Case of SATB2-Associated 2q32-q33 Microdeletion Syndrome
-
Yu N, Shin S, Lee KA
- KMID: 2363196
- Ann Lab Med.
- 2015 Mar;35(2):275-278.
- doi: 10.3343/alm.2015.35.2.275
No abstract available. -
- CITED
-
- Close
- SHARE
-
- Close
- Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome
-
Lee MN, Lee J, Yu HJ, Lee J, Kim SH
- KMID: 2373617
- Ann Lab Med.
- 2017 Jan;37(1):66-70.
- doi: 10.3343/alm.2017.37.1.66
Pallister-Killian syndrome (PKS) is a rare multisystem disorder characterized by isochromosome 12p and tissue-limited mosaic tetrasomy 12p. In this study, we diagnosed three pediatric patients who were suspicious of having... -
- CITED
-
- Close
- SHARE
-
- Close
- A Dispermic Chimera with Mixed Field Blood Group B and Mosaic 46,XY/47,XYY Karyotype
-
Cho D, Lee SK, Yazer MH, Shin MG, Shin JH, Suh SP, Song JW, Jeon MJ, Kim JY, Park JT, Ryang DW
- KMID: 1778370
- J Korean Med Sci.
- 2007 Jun;22(3):553-556.
- doi: 10.3346/jkms.2007.22.3.553
Chimerism in humans is a rare phenomenon often initially identified in the resolution of an ABO blood type discrepancy. We report a dispermic chimera who presented with mixed field in... -
- CITED
-
- Close
- SHARE
-
- Close
