• Journal of Genetic Medicine
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• v.4 no.1
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• pp.84-87
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• 2007

Spinocerebellar Ataxia Type 3 (SCA 3) is a rare autosomal dominative disorder in which one of the neurodegenerative disorders is caused by a CAG repeat expansion on chromosome 14q32.1. The age at onset of disease is related to the size of the expanded CAG repeat. We present the prenatal diagnosis of SCA3 in a woman whose husband was known to carry an unstable CAG repeat expansion in the MJD gene. The diagnosis was made using PCR with a fluorescent probe for an expanded MJD allele. The normal ranges of (CAG)n of SCA3 are 14~38 repeats. The husband, who had a family history of SCA 3, has an expanded allele of 69 CAG repeats with a normal allele of 27 repeats. His wife had two normal alleles with 26 and 32 CAG repeats. The fetus had two normal alleles with 26 and 27 CAG repeats; consequently, the baby w as healthy. We report a case of prenatal diagnosis of SCA3 using a fluorescent PCR which is rapid and accurate.

• Childhood Kidney Diseases
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• v.5 no.2
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• pp.182-187
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• 2001

Purpose : To evaluate the clinical significance of antenatally detected mild fetal pelviectasia and the role of voiding cystourethrography (VCUG) Methods : From January 1999 to September 1999, 28 neonates (44 pelviectatic kidneys) with mild fetal pelviectasia (anteroposterial diameter <10 mm) were evaluated by postnatal renal sonography and voiding cystourethrography. Results : Among 44 mild pelviectatic kidneys, 29 ($65.9\%$) kidneys had no pelviectasia and 15 ($34.1\%$) kidneys had persistent mild pelviectasia on postnatal renal sonography. Four ($9.1\%$) kidneys of 3 males ($10.7\%$) without pelviectasia on postnatal renal sonography had vesicoureteral reflux (VUR) on voiding cystourethrography. Vesicoureteral reflux was not correlated with prenatal progression or regression of pelviectasia and was not correlated with postnatal pelviectasia. Conclusion : All neonate with mild fetal pelviectasia need to undergo voiding cystourethrography for early diagnosis of vesicoureteral reflux even though postnatal renal sonography shows no pelviectasia. (J Korean Soc Pediatr Nephrol 2001 ;5 : 182-87)

• Journal of Genetic Medicine
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• v.8 no.1
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• pp.35-43
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• 2011

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 and Methods: We reviewed the medical records of 511 cases of CVS performed between 67 and 120 days of gestation for prenatal cytogenetic diagnosis from April 2000 to April 2010. Fetal karyotypes were obtained by direct and indirect culture methods. Results: The most common indications for CVS were abnormal ultrasonic findings including increased nuchal translucency (294/635, 46.3%). The positive predictive value of abnormal karyotyping according to indication for CVS was highest in cases with abnormal parental karyotypes (14/21, 66.7%). Mosaicism revealed by CVS comprised 3.1% of the sample (16/509). Amniocentesis revealed two cases of true mosaicism and 11 cases of confined placental mosaicism. The fetal loss rate within 4 weeks of the procedure was 1.2% (6/511). Conclusion: If CVS is performed by an expert clinician, it is a feasible and reliable procedure for prenatal genetic diagnosis. When CVS indicates mosaicism, the finding should be confirmed by amniocentesis to distinguish true mosaicism from confined placental mosaicism.

• Journal of Genetic Medicine
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• v.6 no.1
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• pp.95-99
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• 2009

Prenatal diagnosis of rare autosome mosaicism involvingchromosomes other than chromosome 13, 18, 21 or the sex chromosome is encountered prognostic dilemma during genetic counseling. We report four cases of level III uncommon mosaicism of trisomy 5, 16 and 20,diagnosed prenatally. In case 1 with mosaic trisomy 20, there was a higher mosaic ratio of trisomy 20 in the repeat amniocentesis (62.1%) than in the first (36.6%) with normal fetal ultrasound finding except for a relatively small aorta on a 3-vessel view of the fetal heart. Case 2 showed a low rate of mosaic trisomy 20 (5.25%) in cultured amniocytes but normal karyotype in the repeat amniocentesis, who delivered a normal healthy baby. Case 3 showed a 13.6% of trisomy 16 mosaicism in the 30 cells of cultured amniocytes. Sixty cells from a fetal blood sample at termination showed non-mosaic 46,XX normal karyotype, while skin fibroblasts had 22.5% trisomy 16 in 40 metaphases. The autopsy showed ventricular septal defect (VSD). Case 4 with low grade mosaicism (10.5%) of trisomy 5 resulted in elective termination, though the ultrasoumd showed growsly normal fetus. Although level III mosaicism is regarded as true mosaicism, it is difficult to predict the outcome of the fetus with rare mosaic autosome trisomy. Therefore mosaic autosome trisomy of fetus should be carefully interpreted with more various approaches including repeat sampling and targeted fetal ultrasound.

• Clinical and Experimental Pediatrics
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• v.45 no.10
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• pp.1213-1218
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• 2002

Purpose : Hydronephrosis constitutes a great portion of fetal anomalies screened by prenatal sonogram. The present authors made an attempt to access its natural courses through follow up neonatal hydronephrosis diagnosed by prenatal sonogram. Methods : The study was composed of 23 neonates(36 renal units) who were diagnosed with hydronephrosis through prenatal sonogram screening and confirmed 3-7 days after birth with sonographic evaluation at Kyung Hee University Hospital. The neonates were closely monitored for 12-24 months with renal sonogram, diuretic renogram, intravenous pyelography(IVP) and voiding cystoureterography(VCUG). Results : The underlying diseases were composed of 16 cases(44%) of functional abnormalities, 14 cases(39%) of ureteropelvic junction(UPJ) obstruction, three cases(8%) of vesicoureteral reflux (VUR) and on case each of multicystic dysplastic kidney, UPJ obstruction with ureteral stenosis and ureterovesical junction(UVJ) obstruction with VUR. The degree of hydronephrosis was divided into three classes according to its severity. In 30 renal units with UPJ obstruction and functional abnormalities, 26(87%) showed mild hydronephrosis, while four(13%) were moderate. During the follow up period, six cases(20%) showed natural resolution of hydronephrosis, 15 cases(50%) showed improvement while two cases(7%) were aggravated with improvement only after surgery of the underlying disease. The cases which showed natural resolution were all mild hydronephrosis at diagnosis and the cases which underwent surgery due to continuous aggravation were mild one case and moderate one case. Conclusion : Those with cases of mild hydronephrosis show rapid natural improvement. On the other hand, in some cases, follow up monitoring reveal aggravation of the situation, emphasizing the necessity for thorough follow up for a long period of time.

• Clinical and Experimental Reproductive Medicine
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• v.37 no.3
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• pp.261-266
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• 2010

Diagnosis of heterotopic pregnancy could be delayed because of insufficient clinical symptoms. Many clinician mistook the symptoms associated with ectopic pregnancy for the symptoms of complicated normal intrauterine pregnancy. The incidence of heterotopic pregnancies has been increased because of the use of various ovulation induction and assisted reproductive technologies. We experienced a case of bilateral tubal pregnancies and intrauterine twin pregnancy in polycystic ovary syndrome woman conceived after ovulation induction by clomiphene citrate. We report this case with a brief review of the literatures.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.78-81
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• 2010

Pericentric inversion is not rare in humans and is usually benign. However, pericentric inversion can lead to production of an unbalanced recombinant and might be a cause of repetitive pregnancy loss. Pericentric inversion of chromosome 22 is rare and only a few cases have been reported. We report a case of inv(22)(p13q12) carrier who had history of repetitive pregnancy loss including three spontaneous abortions and one fetal hydrops in which the chromosomal complement was rec(22)dup(22q) inv(22)(p13q12)mat. The maternal inv(22) and fetal rec(22) were confirmed by fluorescence in situ hybridization using region-specific probes (TUPLE1 on 22q11.2 and ARSA on 22q13). Because the identification of inv(22) or rec(22) in conventional karyotyping might be easily overlooked, great attention and additional molecular tests are required for accurate diagnosis of inv(22) and rec(22).

• Korean Journal of Poultry Science
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• v.7 no.2
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• pp.18-27
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• 1980

Infectious bursal disease, so called Gumboro disease, is found world-wide in areas of intensive poultry farming. The clinical signs of the disease are very indicative, but most infections occur unnoticed due to the age of infection of chicken as well as the degree of virulence of virus affected. Edematous and hemorrhagic lesions in BF at early course of infection and the complete atrophies of BF in later are the most characteristic. The infection is considered highly contagious by direct contact, by fecal material and by contaminated feed and water. The virus is also highly resistant in environment and belongs to Diploma virus with size of 55 to 60nm of Ribovirus group. IBDV grows in embryos, embryonic cells and BF of susceptible chickens. Immune-diffusion using agar gel is the method of a choice to determine IBDV infection in chickens. Maternal immunity is very effective in protecting chickens of critical age when IBDV infection severely damages the function of BF. Immunosuppressive effect of IBDV causes more production losses than direct effects of clinical disease of IBD. Inclusion body hepatitis, infectious anemia and gangrenous dermatitis syndrome are the disease associated with the immunosuppressive condition of chickens.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.6 no.2
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• pp.197-201
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• 2003

Gastric teratoma is an extremely rare neoplasm in children which account for less than one percent of all teratomas. Unlike other teratomas, most reported gastric teratomas was benign except one case and occurred predominantly in boys. Additionally, gastric teratomas present in the first year of life as a palpable mass, abdominal distension, vomiting, hematemesis or respiratory distress. Patients with gastric teratomas have an excellent prognosis after complete excision of the tumor. We report a case of immature gastric teratoma in an one-day-old boy, which was diagnosed by abdominal sonography and CT scan, and confirmed by surgery.

• Development and Reproduction
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• v.3 no.1
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• pp.15-19
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• 1999

Preeclampsia is a common, pregnancy-induced hypertensive disease leading to severe morbidity in the mother and fetus. Although the etiology of preeclampsia remains unclear, many studies focus mutation of placental mitochondria as the cause of this disease. This review covers mutation of placental mitochondria as the possible etiology of preeclampsia, prevention and treatment strategies based on the hypothesis of mutation of placental mitochondria in the etiology of preeclampsia.