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Concurrence of Obstetric Brachial Plexus Injury, Congenital Muscular Torticollis and Cleft Palate

Lee HB, Park MC, Kim C, Han JD, Lee SJ, Kim SY, Yim SY

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

Kang HS, Son YS, Kim SY, Park CM, Shim SS

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

Cheon CK, Park SJ, Choi OH

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

Kang SY, Lee BH, Kim GH, Choi JH, Yoo HW

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

Lee DW, Kim JJ, Kim JH, Lee JK, Yoo HW

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)

Han SH, An JW, Yang YH, Kim YJ, Cho HI, Lee KR

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

Kim SH, Shim SH, Baek JW, Cha DH

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

Lee YK, Lee SM

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

Kim SY, Ryu HM

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

Yang YH, Han SH, Lee KR

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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