• Journal of Genetic Medicine
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• 제11권2호
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• pp.49-55
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• 2014

Genetic ultrasonography refers to the evaluation of risk of chromosomal abnormalities via various soft sonographic markers. Although the maternal serum test is the primary screening method for chromosomal abnormalities, genetic ultrasonography is also widely used and can help increase detection rates. To date, many soft markers, including choroid plexus cysts, echogenic intracardiac foci, mild ventriculomegaly, nuchal fold thickening, echogenic bowel, mild pyelectasis, short femur and humerus length, and absent or hypoplastic nasal bone, have been reported. An aberrant right subclavian artery was the most novel soft marker introduced. Because these soft markers involve diverse relative risks of chromosomal abnormalities, it is difficult to apply them to clinical practice. To optimize the efficacy of genetic ultrasonography, it is important to understand the precise relative risks of chromosomal abnormalities innumerous soft markers and integrate these risks with each other and the results of maternal serum screening.

• Asian Pacific Journal of Cancer Prevention
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• 제14권12호
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• pp.7149-7154
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• 2013

Objective: Increasing scientific evidence suggests that common variants in the PALB2 gene may confer susceptibility to breast cancer, but many studies have yielded inconclusive results. This meta-analysis aimed to derive a more precise estimation of the relationship between PALB2 genetic variants and breast cancer risk. Methods: An extensive literary search for relevant studies was conducted in PubMed, Embase, Web of Science, Cochrane Library, CISCOM, CINAHL, Google Scholar, CNKI and CBM databases from their inception through September 1st, 2013. A meta-analysis was performed using the STATA 12.0 software and crude odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. Results: Six case-control studies were included with a total of 4,499 breast cancer cases and 6,369 healthy controls. Our meta-analysis reveals that PALB2 genetic variants may increase the risk of breast cancer (allele model: OR>1.36, 95%CI: 1.20~1.52, P < 0.001; dominant model: OR>1.64, 95%CI: 1.42~1.91, P < 0.001; respectively). Subgroup analyses by ethnicity indicated PALB2 genetic variants were associated with an increased risk of breast cancer among both Caucasian and Asian populations (all P < 0.05). No publication bias was detected in this meta-analysis (all P > 0.05). Conclusion: The current meta-analysis indicates that PALB2 genetic variants may increase the risk of breast cancer. Thus, detection of PALB2 genetic variants may be a promising biomarker approach.

• Journal of Genetic Medicine
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• 제19권2호
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• pp.43-48
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• 2022

A prenatal chromosomal microarray (CMA) is generally recommended when a major anomaly is suspected on prenatal ultrasonography. As it can overcome the limitations of conventional karyotyping, it is expected that the number of prenatal CMA test requests will gradually increase. However, given the specificity of prenatal diagnosis, there are practical considerations compared to postnatal testing, such as the validation of prenatal specimens, maternal cell contamination, precautions when reporting variants of uncertain significance, and the need for comprehensive genetic counseling considering secondary findings. The purpose of this article is to provide necessary information to health care providers in consideration of these issues and to provide appropriate genetic counseling to patients.

• Journal of Genetic Medicine
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• 제15권1호
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• pp.8-12
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• 2018

Purpose: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. Materials and Methods: We collected cases with de novo balanced translocations that were confirmed in chorionic villus sampling, amniocentesis, and cordocentesis between 1995 and 2016. A detailed, high-resolution ultrasonography was performed for prediction of prognosis. Chromosomes from the parents of affected fetuses were also analyzed to determine whether the balanced translocations were de novo or inherited. Results: Among 32,070 cases with prenatal cytogenetic analysis, 27 cases (1/1,188 incidence) with de novo balanced translocations were identified. Fourteen cases (51.9%) showed abnormal findings, and the frequency of major structural anomalies was 11.1%. Excluding the major structural anomalies, all mothers who continued pregnancies delivered healthy babies. Conclusion: Results of a detailed, high-resolution ultrasound examination are very important in genetic counseling for prenatally diagnosed de novo balanced translocations.

• Asian-Australasian Journal of Animal Sciences
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• 제15권3호
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• pp.445-452
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• 2002

The main objective of modern reproductive technologies in pig reproduction is to increase reproductive efficiency and rates of genetic improvement. They also offer potential for greatly extending the multiplication and transport of genetic materials and the conservation of unique genetic resources in reasonably available forms for possible future use. The development and refinement of these technologies is concentrating on gamete and embryo collection, sorting and preservation, in vitro production of embryos, culturing, manipulation of embryos (splitting, nuclear transfer, production of chimeras, establishment embryo stem cells, and gene transfer) and embryo transfer. Also, the development of these novel technologies is facilitated by modern equipment for ultrasonography, microscopy, cryopreservation, endoscopy, and flow cytometry, microinjectiors, micromanipulators and centrifugation. The real impact on herd productivity will come from combining new reproductive techniques with powerful DNA technologies. The new reproductive techniques will allow a rapid turnover of generations, whereas the DNA technology can provide selection, which does not need phenotypic information when the selection decisions are made.

• 한국임상수의학회지
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• 제27권6호
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• pp.726-728
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• 2010

상염색체 우성 다낭성 신병은 페르시안과 페르시안에서 유래된 품종에서 다발하는 질환으로, 스코티쉬 폴드 고양이에서도 간혹 보고된 바가 있다. 5살령의 수컷 스코티쉬 폴드 고양이가 기본적인 혈액 검사와 복부 초음파 등을 통해 다낭성 신병으로 진단 받은 후 3.5 개월 만에 폐사하였다. 이 고양이는 동배 암컷 고양이를 비롯한 3 마리의 암컷 고양이와 교배하여 14마리의 새끼고양이가 있었으며 연령대는 3개월령에서 8년령으로 다양하였다. 상염색체 우성 다낭성 신병인지를 확인하기 위해 변이된 PKD1 유전자에 대한 유전자 검사가 이루어졌다. 또한 복부 초음파를 통해 신장의 낭성 구조물을 확인하는 검사도 이루어졌다. 총 19마리 (수컷: 13마리, 암컷: 6 마리) 에 대한 검사가 이루어 졌으며 연령대는 3개월에서 8년령 사이였다. 검사 결과, 19마리 모두에서 유전자 검사와 초음파 검사 결과가 일치하였고, 이 중 8마리가 상염색체 우성 다낭성 신병으로 진단되었다. 아직까지 한국에서는 고양이의 상염색체 우성 다낭성 신병은 보고 된바 없으며, 본 조사는 가족 단위의 스코티쉬 폴드 고양이에 발생한 상염색체 우성 다낭성 신병에 대한 첫 보고이다.

• Journal of Genetic Medicine
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• 제2권2호
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• pp.49-51
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• 1998

Wolf-Hirschhorn syndrome (WHS) is caused by a deletion of the short arm on chromosome 4 and is characterized by multiple congenital abnormalities, growth and mental retardation. In this case report, we performed amniocentesis for the chromosome analysis on a 25-year-old pregnant woman at 16 weeks of gestation whom we suspected of Edward's syndrome by the triple test of maternal serum and ultrasonography. The result of analysis revealed a karyotype of the fetus with 46,XY,del(4)(p15) by trypsin Giemsa's banding technique. With the result, we were able to diagnose the fetus as having WHS. As such, after therapeutic termination of the pregnancy, we confirmed WHS through the sampling of tissue by both trypsin Giemsa's banding and fluorescence in situ hybridization (FISH) method. To determine the origin of the WHS, we further tested the karyotypes of the parents. As parental karyotypes were found to be normal, we determined the case of the fetal WHS to be de novo.

• Childhood Kidney Diseases
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• 제20권2호
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• pp.88-91
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• 2016

Nephrogenic diabetes insipidus (NDI) can cause nonobstructive hydronephrosis. Congenital NDI (CNDI) is caused by a genetic mutation. This case report presents a 12-year-old girl who was incidentally diagnosed with nonobstructive hydronephrosis due to NDI caused by AQP2 gene mutation after being evaluated for microscopic hematuria found on routine health examination at school. The patient's medical and family history was unremarkable, and she complained of nocturia only at the time of the clinic visit. Bilateral hydronephrosis on abdominal ultrasonography prompted a water deprivation test, leading to diagnosis of NDI. Genetic study confirmed p.Asn (AAC)123Ser (AGC) in exon 2 of the AQP2 gene. Polyuria and hydronephrosis improved following arginine-vasopressin therapy. CNDI responsive to treatment should be considered as a possible cause of nonobstructive hydroureter.

• Journal of Genetic Medicine
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• 제15권1호
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• pp.43-47
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• 2018

Partial hydatidiform mole and coexisting fetus is a rare entity with antecedent high risk of maternal and fetal complications, and risk of persistent trophoblastic disease in later life. Here, we report a case of twin pregnancy with live fetus identified as 45,X and normal placenta and another partial mole. Ultrasound scan at 10 weeks showed a hydrops fetus with a focal area of multicystic placenta. The patient underwent chorionic villus sampling and amniocentesis for chromosomal analysis, and the result was 45,X. Based on these finding, the patient then underwent induced abortion. Pathological examination (immunohistochemical staining) of the placenta confirmed the partial mole. This report suggests that careful prenatal ultrasonography and appropriate karyotyping in a molar pregnancy and coexisting fetus enable early diagnosis and may be beneficial for prognosis.

• 한국동물생명공학회지
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• 제34권3호
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• pp.253-258
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• 2019

A female English bulldog was gave birth two neonates by cesarean section on the sixty one days after mating, but both neonates were died soon after birth. The bodies of neonates were diagnosed using radiography, ultrasonography, computed tomography and necropsy immediately after death. Both neonates had caudal regression syndrome, butterfly vertebra, hydrocephalus, umbilical hernia, cleft palate and bow-legged hind-limb. At necropsy, neonates had mild fetal anasarca, cleft lip and the skull was remained non-union. At thoracic cavity, only three ribs and thoracic spines were existed and patent ductus arteriosus was found. At abnormal cavity, the renal ectopia was found with abnormal morphology. In the present case, those English bulldog neonates with multiple congenital malformation syndromes seriously suffered vertebral column anomalies and that may induced by neural tube defects in during embryonic period. To prevent congenital malformation occurring in English bulldog, further in depth studies are needed for the breed specific genetic diversity and for the reason of behind genetic abnormality in these breed.