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Adrenal Cortical Neoplasm with Uncertain Malignant Potential Arising in the Heterotopic Adrenal Cortex in the Liver of a Patient with Beckwith-Wiedemann Syndrome

Kim EN, Song DE, Yoon HM, Lee BH, Kim CJ

Patients with Beckwith-Wiedemann syndrome (BWS) are predisposed to developing embryonal tumors, with hepatoblastoma being the most common type. Our patient showed hemihypertrophy, macroglossia, and paternal uniparental disomy in chromosome 11...
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A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22

Choi SA, Kim SY, Yoon J, Choi J, Park SS, Seong MW, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Kim S, Lee YJ, Nam SO, Lim BC

BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited disorder characterized by infantile-onset macrocephaly, slow neurologic deterioration, and seizures. Mutations in the causative gene, MLC1, are found in...
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A case of maternal uniparental disomy of chromosome 20 detected by noninvasive prenatal test of 1,000 high-risk pregnancies

Cha DH, Lee J, Jeon YJ, Jung YW, Jang JH, Lee T, Cho EH

Chromosomal loss in trisomy (trisomy rescue) to generate a disomic fetus can cause confined placental mosaicism and/or feto/placental mosaicism. After trisomy rescue event, there is a risk of fetal uniparental...
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Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q: A case report

Lee JH, Kim HS, Kim GH, Yoo HW

Pseudohypoparathyroidism type 1b (PHP 1b) is the result of end organ resistance to parathyroid hormone (PTH) in the absence of any features of Albright's hereditary osteodystrophy. There are two subtypes...
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Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion

Yang A, Lee YH, Nam SY, Jeong YJ, Kyung Y, Huh R, Lee J, Kwun Y, Cho SY, Jin DK

PURPOSE: Prader-Willi syndrome (PWS) is a well-known genetic disorder, and microdeletion on chromosome 15 is the most common causal mechanism. Several previous studies have suggested that various environmental factors might...
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Prenatal diagnosis of trisomy 7 mosaicism with omphalocele in the first trimester of pregnancy

Ko MK, Cho IA, Lee JI, Park JK, Shin JK, Choi WJ, Lee SA, Lee JH, Paik WY

  • KMID: 2393149
  • Korean J Obstet Gynecol.
  • 2012 Oct;55(10):751-755.
The trisomy 7 is rare autosomal aneuploidy worldwide, which accounts for 4%-10% of all trisomies, and most of the cases are mosaicism. The partial trisomy 7 mosaicism demonstrates facial deformities,...
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Growth Hormone Treatment and Its Effect on Height in Pediatric Patients with Different Genotypes of Prader-Willi Syndrome

Kwun C, Cho SY, Maeng SH, Jung YJ, Jin DK

PURPOSE: Differences in phenotypes between the two most common subtypes of Prader-Willi syndrome (PWS) indicate that a distinct response to growth hormone (GH) treatment may exist. To test this hypothesis,...
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Clinical and Genetic Characteristics of Prader-Willi Syndrome and Angelman Syndrome

Kim JH, Yum MS, Choi HW, Lee EH, You SJ, Ko TS, Yoo HW

  • KMID: 1442115
  • J Korean Child Neurol Soc.
  • 2011 Aug;19(2):150-157.
PURPOSE: Two different disorders, Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are caused by the deletion of 15q11-13 or the maternal/paternal uniparental disomy of chromosome 15 (mUPD(15)/pUPD(15)) through the genomic...
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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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Systematic review of the clinical and genetic aspects of Prader-Willi syndrome

Jin DK

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic...
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Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR)

Jin HY, Choi JH, Kim GH, Yoo HW

Transient neonatal diabetes mellitus (TNDM) has been associated with paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, or a methylation defect at a CpG island of the...
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Phenotype-genotype correlations and the efficacy of growth hormone treatment in Korean children with Prader-Willi syndrome

Bae KW, Ko JM, Yoo HW

PURPOSE: Prader-Willi syndrome (PWS) is a complex genetic disorder, caused by the deletion of the paternally derived 15q11-13 region or the maternal uniparental disomy of chromosome 15 (mUPD(15)). In this...
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Two Cases of Transient Neonatal Diabetes Mellitus in Twin Brothers

Cho JH, Shin EW, Yang S, Park EY, Kim KN, Lee DY, Oh PS

  • KMID: 1568756
  • J Korean Soc Pediatr Endocrinol.
  • 2004 Dec;9(2):204-207.
Neonatal diabetes mellitus (NDM) is defined as hyperglycemia that presents clinical symptoms within the first month of life and requires insulin therapy to maintain euglycemia. The diabetic condition may be...
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Clinical Characteristics and Genetic Analysis of Prader-Willi Syndrome

Lee JE, Moon KB, Hwang JH, Kwon EK, Kim SH, Kim JW, Jin DK

  • KMID: 2207178
  • J Korean Pediatr Soc.
  • 2002 Sep;45(9):1126-1133.
PURPOSE: Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical...
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Genetic Analysis in a Case of Transient Neonatal Diabetes Mellitus with Congenital Adrenal Hyperplasia

Kwon HJ, Park JA, Lee SL, Kim HS, Jeon DS, Jin DK, Hwang PH

  • KMID: 2193629
  • J Korean Soc Pediatr Endocrinol.
  • 2002 Jun;7(1):116-121.
A case of transient neonatal diabetes mellitus combined with congenital adrenal hyperplasia(CAH) is described. A female infant was born by cesarean delivery due to fetal distress, she had sunken eyeball...
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Study of Genetic Imprinting on 3 Cases of Insulin-Dependent Diabetes Mellitus Developed in Early Infantile Period

Song SM, Kim JS, Oh MR, Yang SW, Han HK, Jin DK

  • KMID: 2193876
  • J Korean Soc Pediatr Endocrinol.
  • 1998 Nov;3(2):213-218.
Infantile onset diabetes mellitus(especially, neonatal diabetes) is rare disorder and may be transient or permanent. Most patients are full-term but small-for-date infants and typical symptoms occur within the first 4-6...
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A Case of Prader-Willi Syndrome with Microdeletion of Chromosome 15 q11-q13 Confirmed by FISH

Jang JH, Song JY, Suh BK, Lee WB, Lee BC

  • KMID: 2001546
  • J Korean Soc Pediatr Endocrinol.
  • 1997 Mar;2(1):145-152.
Prader-Willi(PW)syndrome is characterized by obesity, hypotonia, mental retardation, hypogonadism, short stature, excessive eating and characteristic facial appearance. Diabetes mellitus has been considered a component of PW syndrome. Recently this syndrome...
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