- Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome
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Ko JM, Kim JB, Pai KS, Yun JN, Park SJ
- KMID: 1792906
- J Korean Med Sci.
- 2010 Dec;25(12):1798-1801.
- doi: 10.3346/jkms.2010.25.12.1798
The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome.... -
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- De Novo San Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl
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Sánchez-Casillas AL, Rivera H, Castro-MartÃnez AG, GarcÃa-Ortiz JE, Córdova-Fletes C, Mendoza-Pérez P
- KMID: 2373623
- Ann Lab Med.
- 2017 Jan;37(1):88-91.
- doi: 10.3343/alm.2017.37.1.88
No abstract available. -
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- Threshold of Nuchal Translucency for the Detection of Chromosomal Aberration: Comparison of Different Cut-offs
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Kim MH, Park SH, Cho HJ, Choi JS, Kim JO, Ahn HK, Shin JS, Han JY, Kim MY, Yang JH
- KMID: 2157774
- J Korean Med Sci.
- 2006 Feb;21(1):11-14.
- doi: 10.3346/jkms.2006.21.1.11
This study evaluated the sensitivities and false positive rates of the screening test using ultrasonographic measurement of thickness of nuchal translucency (NT) with different cut-offs for chromosomal aberration in a... -
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- The First Korean Patient with Potocki-Shaffer Syndrome: A Rare Cause of Multiple Exostoses
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Sohn YB, Yim SY, Cho EH, Kim OH
- KMID: 2129654
- J Korean Med Sci.
- 2015 Feb;30(2):214-217.
- doi: 10.3346/jkms.2015.30.2.214
Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including... -
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