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A case of follow-up of a patient with 22q11.2 distal deletion syndrome and a review of the literature

Ha DJ, Park JS, Jang W, Jung Ny, Kim SJ, Moon Y, Lee J

Microdeletions of chromosome 22q11.2 are one of the most common microdeletions occurring in humans, and is known to be associated with a wide range of highly variable features. These deletions...
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Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue

Barbosa LG, Siviero-Miachon AA, Souza MA, Spinola-Castro AM

Purpose: Turner syndrome is defined as total or partial loss of the second sex chromosome in a phenotypically female patient. Due to the possibility of hidden mosaicism of fragments of...
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Significance of Y Chromosome Loss in Hematologic Malignancies

Kwak MS, Jeong IH, Kim WJ, Choi HW, Han JY

Loss of chromosome Y (-Y) is one of the most common somatic genomic alterations in the male hematopoietic system. However, it has been widely debated whether -Y is an aging-related...
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Novel Point Mutation of EBSS Gene Coexisted with 1p36 Deletion

Zheng Y, Xu Q, Lai W

EBSS (epidermolysis bullosa simplex superficialis) is mainly caused by gene mutations which targeted protein as plakophilin-1, desmoplakin and keratins. 1p36 gene deleted could cause typical clinical manifestations and might also...
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Two Cases of Ocular Manifestations in Patients with Microdeletion of the Chromosome 7 Long Arm

Kim SY, Lee SM, Shin J, Lee JE, Kim SJ

Purpose: We report ocular manifestations in two patients with 7q microdeletion. Case summary: (Case 1) A 62-day-old male infant was admitted to the ophthalmology outpatient department for ocular examination after...
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Trisomy 9 Mosaicism in an Extremely Low Birth Weight Infant

Cho H, Heo JS, Ahn KH, Hong SC

Trisomy 9 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. In this report, we present an extremely low birth weight (ELBW) infant with trisomy 9 mosaicism....
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The first Korean case of a newborn with 3p26 microdeletion and 5q35 microduplication inherited from paternal balanced translocation

Jang JA, Sohn YB, Lee JH, Park MS

Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies...
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Clinical utility of chromosomal microarray analysis to detect copy number variants: Experience in a single tertiary hospital

Park HS, Kim A, Shin KS, Son BR

Purpose: To summarize the results of chromosomal microarray analysis (CMA) for copy number variants (CNVs) detection and clinical utility in a single tertiary hospital. Materials and Methods: We performed CMA in...
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A Case of Familial Ring Chromosome 21 Mosaicism

Kang H, Park S, Kim DH, Lee W, Ryoo N, Jeon DS, Kang SJ, Ha JS

Parent-to-child transmission of ring chromosome (RC) 21 with retained mosaicism has been reported very rarely. Here, we report a case of familial RC 21 mosaicism composed of several derivative clones...
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Clinical Practice Guidelines for Prenatal Aneuploidy Screening and Diagnostic Testing from Korean Society of Maternal-Fetal Medicine:(2) Invasive Diagnostic Testing for Fetal Chromosomal Abnormalities

Lee JY, Kwon JY, Na S, Choe SA, Seol HJ, Kim M, Kim MA, Park CW, Kim K, Ryu HM, Hwang HS, Shim JY

The Korean Society of Maternal Fetal Medicine proposed the first Korean guideline on prenatal aneuploidy screening and diagnostic testing, in April 2019. The clinical practice guideline (CPG) was developed for...
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A Case of an Interstitial Deletion in Chromosome 1p Confirmed by Array Comparative Genome Hybridization

Park MJ, Kim SH, Lim DJ, Yoo SJ

Deletion in chromosome 1p is a rare chromosomal abnormality, and its genotype-phenotype correlation has not yet been clearly determined. Here, we report the molecular cytogenetic findings and clinical manifestations observed...
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A newborn with developmental delay diagnosed with 4q35 deletion and 10p duplication

Kim BJ, Jang W, Kim M, Youn Y

We report the case of an infant with a 4q35.1 deletion with 10p duplication. This mutation is rarely reported in the literature and has been found to have variable clinical...
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Evaluation of PTEN Inhibitor Following Spinal Cord Injury on Recovery of Voiding Efficiency and Motor Function Observed by Regeneration in Spinal Cord

Cho YS, Kim SJ, Kim KH

Purpose: Neurogenic bladder (NB) associated with spinal cord injury (SCI) is a serious health problem. However, no effective treatment has been developed for SCI patients with NB. Phosphatase and tensin...
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Deep Phenotyping in 1p36 Deletion Syndrome

Shim Y, Go YJ, Kim SY, Kim H, Hwang H, Choi J, Lim BC, Kim KJ, Chae JH

Purpose: Although 1p36 deletion syndrome is the most common terminal deletion syndrome, unexplained phenotypic variability still occurs. We aimed to delineate the phenotype of this syndrome in detail and to...
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Clinical manifestation, diagnosis, and treatment of Klinefelter syndrome

Cho HH

Klinefelter syndrome is the most common congenital chromosomal syndrome in men. Clinical manifestations of Klinefelter syndrome vary greatly depending on the level of expression of the added X chromosome, the...
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Philadelphia+ Chronic Myeloid Leukemia with CALR Mutation: A Case Report and Literature Review

Yoon SY, Jeong SY, Kim C, Lee MY, Kim J, Kim KH, Lee N, Won JH

Myeloproliferative neoplasms (MPNs) are classified as chronic myeloid leukemia (CML) and Philadelphia chromosome-negative MPN. In MPN cases, the presence of a BCR-ABL1 translocation with a coexisting mutation is exceptionally rare....
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Trisomy 12p Syndrome Presenting with Fetal Growth Restriction and Polyhydramnios

Park JE, Ryu KJ, Nam SH, Cho GJ, Hong SC, Oh MJ, Kim HJ, Ahn KH

A 39-year-old nulliparous woman was referred at 36+6 weeks gestational age, and a prenatal fetal ultrasonography examination found fetal growth restriction (2,190 g
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Association between Ultrasonography Findings and Abnormal Karyotypes in Early Pregnancy Loss

Pae J, Park J, Kim S, Kim R, Wie J, Ko HS, Park IY, Shin JC

Objective: Chromosomal abnormality in the fetus is a major cause of early pregnancy loss (EPL). It is considered that maternal age is a risk factor of chromosomal abnormality in the...
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Characteristics of Interstitial Deletion in Chromosome 4q Confirmed by Array Comparative Genomic Hybridization: A Case Report and Literature Review

Chung WY, Lee SJ, Kim HR, Jun KR

Chromosome 4q deletion syndrome is a rare disease caused by partial deletion of the long arm of chromosome 4. Phenotypic severity and expressivity vary among patients with chromosome 4q deletions,...
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Terminal Deletion of the Chromosome 4q with Hemivertebra: Case Report

Ko SH, Lee HJ, Kim CR, Park HK, Ahn JH

The terminal deletion of the long arm of chromosome 4 is a very rare autosomal abnormality with an approximate incidence of 1 in 100,000 and overall mortality of 28%. This...
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