- Importance of family segregation in the American College of Medical Genetics and Genomics and Association of Molecular Pathology guidelines: Case of a Korean family with autosomal dominant polycystic disease
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Kwon WK, Kim S, Jang JH, Kim JW
- KMID: 2503613
- J Genet Med.
- 2020 Jun;17(1):51-54.
- doi: 10.5734/JGM.2020.17.1.51
Since the American College of Medical Genetics and Genomics and Association of Molecular Pathology published their guidelines in 2015, most interpretations of genetic tests have followed them. However, all variants... -
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- A case of 45,X/47,XXX mosaic Turner syndrome: Clinical manifestations and effect of growth hormone treatment
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Yoo SH, Ahn MB, Kim SH, Cho WK, Jung MH, Suh BK, Cho K
- KMID: 2503612
- J Genet Med.
- 2020 Jun;17(1):47-50.
- doi: 10.5734/JGM.2020.17.1.47
In Turner syndrome (TS), 45,X/47,XXX mosaicism is a rare genotype. Due to its low frequency, the clinical features and prognosis are not clearly known. A 10-year-old girl was diagnosed with... -
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- Shprintzen–Goldberg syndrome with a novel missense mutation of SKI in a 6-month-old boy
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Jeon MJ, Park SG, Kim MJ, Lim BC, Kim KJ, Chae JH, Kim SY
- KMID: 2503611
- J Genet Med.
- 2020 Jun;17(1):43-46.
- doi: 10.5734/JGM.2020.17.1.43
The Shprintzen–Goldberg syndrome (SGS) is an extremely rare genetic disorder caused by heterozygous variant in SKI . SGS is characterized by neurodevelopmental impairment with skeletal anomaly. Recognition of SGS is... -
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- Clinical features of Senior–Loken syndrome with IQCB1/NPHP5 mutation in a Filipino man
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Chiu HHC, Sucaldito MSFP, Maceda EBG, Montemaor JAS, Tamondong-Lachica DR
- KMID: 2503610
- J Genet Med.
- 2020 Jun;17(1):39-42.
- doi: 10.5734/JGM.2020.17.1.39
The Senior–Loken syndrome was first described in 1961 as an oculo-renal disease consisting of familial juvenile nephronophthisis and Leber congenital amaurosis. It is a rare autosomal recessive disorder with a... -
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- Dopa-responsive dystonia with additional unusual clinical features: A case report confirmed by molecular genetics
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Lee WW, Choi JM, Lee CG
- KMID: 2503609
- J Genet Med.
- 2020 Jun;17(1):34-38.
- doi: 10.5734/JGM.2020.17.1.34
The term dopa-responsive dystonia (DRD) is used to describe a group of neurometabolic disorders, which are characterized by dystonia, and are typically associated with diurnal fluctuations and respond to levodopa... -
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- Prenatal molecular diagnosis and carrier detection of Duchenne muscular dystrophy in Korea
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Kang MJ, Seong MW, Cho SI, Park JS, Jun JK, Park SS
- KMID: 2503608
- J Genet Med.
- 2020 Jun;17(1):27-33.
- doi: 10.5734/JGM.2020.17.1.27
Purpose: Duchenne muscular dystrophy (DMD) is the most common lethal muscular dystrophy and is caused by the genetic variants of DMD gene. Because DMD is X-linked recessive and shows familial... -
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- Clinical application of chromosomal microarray for pathogenic genomic imbalance in fetuses with increased nuchal translucency but normal karyotype
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Lee D, Go S, Na S, Park S, Ma J, Hwang D
- KMID: 2503607
- J Genet Med.
- 2020 Jun;17(1):21-26.
- doi: 10.5734/JGM.2020.17.1.21
Purpose: To evaluate the additive value of prenatal chromosomal microarray analysis (CMA) in assessing increased nuchal translucency (NT) (≥3.5 mm) with normal karyotype and the possibility of detecting clinically significant... -
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- Risk of Down syndrome in duodenal atresia and atrioventricular septal defect: Is there an ethnic difference?
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Lee SM, Jun JK, Kim HY, Shin SH, Park JW, Kim MK, Park CW, Park JS
- KMID: 2503606
- J Genet Med.
- 2020 Jun;17(1):16-20.
- doi: 10.5734/JGM.2020.17.1.16
Purpose: Duodenal atresia (DA) and atrioventricular septal defect (AVSD) are well known ultrasonographic findings associated with Down syndrome. The risk of Down syndrome in fetuses with these anomalies has been... -
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- Experiences and efficacy of noninvasive prenatal test using maternal plasma in single center: 1,591 cases
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Hong SY, Shim SH, Park HJ, Shim SS, Kim JY, Cho YK, Kim SH, Cha DH
- KMID: 2503605
- J Genet Med.
- 2020 Jun;17(1):11-15.
- doi: 10.5734/JGM.2020.17.1.11
Purpose: The objective of this study was to analyze the results of several noninvasive prenatal tests (NIPTs) from a single center and confirm their efficacy and reliability. In addition, we... -
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- Insight into the pathogensis of polycystic ovarian syndrome
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Jung YW, Lee GH, Han YJ, Cha DH
- KMID: 2503604
- J Genet Med.
- 2020 Jun;17(1):1-10.
- doi: 10.5734/JGM.2020.17.1.1
Polycystic ovarian syndrome (PCOS) is the most common endocrine disorder in women, which is characterized by the oligo/ anovulation, hyperandrogenism (HA) and polycystic ovarian morphology which are diagnostic criteria. PCOS... -
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