- Concurrence of Obstetric Brachial Plexus Injury, Congenital Muscular Torticollis and Cleft Palate
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Lee HB, Park MC, Kim C, Han JD, Lee SJ, Kim SY, Yim SY
- KMID: 1851095
- J Genet Med.
- 2011 Jun;8(1):71-75.
- doi: 10.5734/JGM.2011.8.1.71
A male infant was diagnosed with obstetric brachial plexus injury, congenital muscular torticollis and cleft palate 17 days after birth. His mother presented with gestational diabetes and premature rupture of... -
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- A Case of Trisomy 8 Mosaicism in a Patient with Secondary Amnorreha without Abnormal Phenotype
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Kang HS, Son YS, Kim SY, Park CM, Shim SS
- KMID: 1851094
- J Genet Med.
- 2011 Jun;8(1):67-70.
- doi: 10.5734/JGM.2011.8.1.67
Constitutional trisomy 8 mosaicism (CT8M) is a relatively rare aneuploidy in humans with characteristic phenotypes including typical craniofacial feature (such as deformed skull, prominent forehead, low-set and/or dysplastic ears), skeletal... -
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- 14q32.33 Deletion Identified by array-CGH in a 5-year old-girl with Seizure
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Cheon CK, Park SJ, Choi OH
- KMID: 1851093
- J Genet Med.
- 2011 Jun;8(1):62-66.
- doi: 10.5734/JGM.2011.8.1.62
Deletions of 14q including band 14q32.33 are uncommon. Patients with terminal deletions of chromosome 14 usually share a number of clinical features. By molecular techniques (array comparative genomic hybridization (CGH)... -
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- A Case of 17q22 with Interstitial Deletion
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Kang SY, Lee BH, Kim GH, Choi JH, Yoo HW
- KMID: 1851092
- J Genet Med.
- 2011 Jun;8(1):58-61.
- doi: 10.5734/JGM.2011.8.1.58
Cases of interstitial deletions of the long arm of chromosome 17 are very rare, with only nine cases ever reported worldwide. We describe a 12-year-old boy with profound developmental delay,... -
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- Association of a c.1084A>G (p.Thr362Ala)Variant in the DCTN4 Gene with Wilson Disease
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Lee DW, Kim JJ, Kim JH, Lee JK, Yoo HW
- KMID: 1851091
- J Genet Med.
- 2011 Jun;8(1):53-57.
- doi: 10.5734/JGM.2011.8.1.53
PURPOSE: Wilson disease is an autosomal recessive disorder which causes excessive copper accumulation in the hepatic region. So far, ATP7B gene is the only disease-causing gene of Wilson disease known... -
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- Incidence and Spectrum of Chromosomal Abnormalities associated with Spontaneous Abortions in Korea: 470 Products of Conception over a Period of 6 Years (2005-2010)
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Han SH, An JW, Yang YH, Kim YJ, Cho HI, Lee KR
- KMID: 1851090
- J Genet Med.
- 2011 Jun;8(1):44-52.
- doi: 10.5734/JGM.2011.8.1.44
PURPOSE: Cytogenetic analysis of spontaneous abortions (SABs) provides valuable information to establish the causes of fetal loss, information that is essential to provide accurate reproductive and genetic counseling couples. Such... -
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- Ten-year Clinical Study of Chorionic Villus Sampling
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Kim SH, Shim SH, Baek JW, Cha DH
- KMID: 1851089
- J Genet Med.
- 2011 Jun;8(1):35-43.
- doi: 10.5734/JGM.2011.8.1.35
PURPOSE: We evaluated indications for chorionic villus sampling (CVS), the positive predictive value of CVS for fetal chromosomal abnormalities, and the fetal loss rate after CVS at CHA Medical Center. MATERIALS... -
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- Clinical Trials and Accuracy of Diagnostic Tests
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Lee YK, Lee SM
- KMID: 1851088
- J Genet Med.
- 2011 Jun;8(1):28-34.
- doi: 10.5734/JGM.2011.8.1.28
Most clinicians understand clinical trials as the evaluation process for new medicine before their use. However, clinical trials can also be applied to laboratory diagnostic tests (LDTs) to verify diagnostic... -
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- Genetics of Pre-eclampsia
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Kim SY, Ryu HM
- KMID: 1851087
- J Genet Med.
- 2011 Jun;8(1):17-27.
- doi: 10.5734/JGM.2011.8.1.17
Pre-eclampsia is a major cause of maternal and perinatal mortality and morbidity worldwide, but remains unclear about the underlying disease mechanisms. Pre-eclampsia is currently believed to be a two-stage disease.... -
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- Noninvasive Prenatal Diagnosis using Cell-Free Fetal DNA in Maternal Plasma: Clinical Applications
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Yang YH, Han SH, Lee KR
- KMID: 1851086
- J Genet Med.
- 2011 Jun;8(1):1-16.
- doi: 10.5734/JGM.2011.8.1.1
Owing to the risk of fetal loss associated with prenatal diagnostic procedures (amniocentesis, chorionic villus sampling), noninvasive prenatal diagnosis (NIPD) is ultimate goal of prenatal diagnosis. The discovery of circulating... -
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