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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

Kwon WK, Kim S, Jang JH, Kim JW

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

Yoo SH, Ahn MB, Kim SH, Cho WK, Jung MH, Suh BK, Cho K

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

Jeon MJ, Park SG, Kim MJ, Lim BC, Kim KJ, Chae JH, Kim SY

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

Chiu HHC, Sucaldito MSFP, Maceda EBG, Montemaor JAS, Tamondong-Lachica DR

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

Lee WW, Choi JM, Lee CG

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

Kang MJ, Seong MW, Cho SI, Park JS, Jun JK, Park SS

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

Lee D, Go S, Na S, Park S, Ma J, Hwang D

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?

Lee SM, Jun JK, Kim HY, Shin SH, Park JW, Kim MK, Park CW, Park JS

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

Hong SY, Shim SH, Park HJ, Shim SS, Kim JY, Cho YK, Kim SH, Cha DH

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

Jung YW, Lee GH, Han YJ, Cha DH

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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