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One Case of BRCA2 Germline Mutation Ovarian Cancer Mother and Carrier Daughter found by Genetic Counseling

Lee EJ, Jeong HJ, Kim MK

Among cause of carcinogenesis, heredity is believed to take about 10 percent in ovarian cancer. BRCA1 or BRCA2 account for largest portion of Hereditary Breast and Ovary Cancer (HBOC). Frequency...
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Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases

Kim BK, Sohn YB, Park SJ, Yim SY, Chung YS

This report describes three cases of 22q11.2 deletion syndrome (22q11.2DS) diagnosed by array comparative genomic hybridization with final adult height and bone phenotype. The cases involved a 57-year-old woman with...
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A Rare Case of Double Trisomy Mosaicism: 47,XXX/47,XX,+8

Lee JH, Kim HS, Ha JS

Double trisomy mosaicism of two different cell lines is extremely rare, particularly those that involve constitutional trisomy 8. We report a case of 47,XXX/47,XX,+8 in a 12-year-old female presenting with...
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A Neonatal Form of Alexander Disease Presented with Intractable Seizures and Obstructive Hydrocephalus

Yoo IH, Hong WG, Kim H, Lim BC, Hwang H, Chae JH, Kim KJ, Hwang YS

Alexander disease is a rare degenerative leukodystrophy caused by dominant mutations in glial fibrillary acidic protein (GFAP). The neonatal form of Alexander disease may manifest as frequent and intractable seizures...
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A Novel Insertion in Exon 23 of the TCOF1 Gene in a Newborn Infant with Treacher Collins Syndrome

Yang JH, Cha HH, Yoon HS

Treacher Collins syndrome (TCS) is the most common and well known mandibulofacial dysostosis with characteristic clinical features including downward slanting of palpebral fissures, coloboma of the lower eyelid, hypoplastic zygomatic...
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Paracentric Inversions Found in Prenatal Diagnosis

Lee SY, Lee BY, Park JY, Choi EY, Lee YW, Oh AR, Ryu HM, Park SY

PURPOSE: This study was designed to confirm whether the paracentric inversions of fetuses and parents may be harmless. MATERIALS AND METHODS: We report 10 cases (0.14%) with paracentric inversions among 7,181...
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Prenatal Diagnosis of Chromosome 22q11.2 Deletions: Experiences in a Single Institution

Chae YH, Kwak DW, Kim MY, Park SY, Lee BY, Lee YW, Lee YH, Song MJ, Ryu HM

PURPOSE: This study was designed to determine the frequency and echocardiographic findings of 22q11.2 deletions in fetuses with cardiac defects on fetal ultrasound or familial backgrounds of 22q11.2 deletions. MATERIALS AND...
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Female Carriers of Duchenne Muscular Dystrophy

Cho YN, Choi YC

Dystrophinopathy, caused by mutations in the DMD gene, presents with variable clinical phenotypes ranging from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy(BMD) forms. DMD is...
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Alexander Disease

Kang JH, Hong SJ, Kim DK

Alexander disease (ALXD) is a rare demyelinating disease of the white matter of the brain that is caused by a mutation in the glial fibrillary acidic protein (GFAP) gene. The...
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Pseudohypoaldosteronism Type 1

Cheong HI

Pseudohypoaldosteronism (PHA), a rare syndrome of systemic or renal mineralocorticoid resistance, is clinically characterized by hyperkalemia, metabolic acidosis, and elevated plasma aldosterone levels with either renal salt wasting or hypertension....
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