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Chromosomal Deletion in 7q31.2-31.32 Involving Ca2⁺-Dependent Activator Protein for Secretion Gene in a Patient with Cerebellar Ataxia: a Case Report

Hong S, Lee SJ, Cho SR

We present a 33-year-old male patient with cerebellar ataxia. He was first considered to have a psychiatric conversion disorder but finally found to have chromosomal deletion in 7q31.2-31.32 involving Ca2⁺-dependent...
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Treatment of Hidradenitis Suppurativa Patient with Klinefelter Syndrome by Adalimumab

Shin JY, Hong JY, Lee HJ, Sim CY, Park YL, Lee JS, Lee SY, Kim JE

Hidradenitis suppurativa (HS) is a chronic, inflammatory and painful skin disease with recurrent nodules and tracts involving the intertriginous regions. It is known that the patient with HS shows an...
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General anesthesia for an adolescent with Pelizaeus-Merzbacher disease: A case report

Kim H, Lim C

Pelizaeus-Merzbacher disease (PMD) is a progressive and degenerative chromosomal disorder of the central nervous system caused by defective myelin production. Few case reports have been issued on the anesthetic management...
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Dental Management in a Patient with Turner Syndrome with Dental Anomalies: A Case Report

Lee H, Shin S, Kim J, Lee D, Yang Y

Turner syndrome (TS) is a chromosomal disorder caused by monosomy of the X chromosome, with complete or partial absence of the second sex chromosome. Anomalies of root morphology have been...
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2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis

Cho EK, Kim J, Yang A, Cho SY, Jin DK

Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a...
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Surgical correction of grade III hypertelorism

Haq EU, Qayyum MU, Ilahı MI, Janjua SA, Aslam A, Zahra R

Orbital hypertelorism is an increased distance between the bony orbits and can be caused by frontonasal malformations, craniofacial clefts, frontoethmoidal encephaloceles, glial tumors or dermoid cysts of the root of...
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Patient With Delayed Development Resulting From De Novo Duplication of 7q36.1-q36.3 and Deletion of 9p24.3

Choi A, Oh JY, Kim M, Jang W, Jang DH

Patients with a duplication from 7q36 to the terminus or a deletion of 9p24 have been reported, whereas those harboring both mutations have not. Here, we report a patient with...
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De Novo San Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl

Sánchez-Casillas AL, Rivera H, Castro-Martínez AG, García-Ortiz JE, Córdova-Fletes C, Mendoza-Pérez P

No abstract available.
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Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome

Lee MN, Lee J, Yu HJ, Lee J, Kim SH

Pallister-Killian syndrome (PKS) is a rare multisystem disorder characterized by isochromosome 12p and tissue-limited mosaic tetrasomy 12p. In this study, we diagnosed three pediatric patients who were suspicious of having...
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A Case of Chromosome 7q34 Deletion in an Infant with Hypothalamic Hamartoma and Biliary Atresia

Lee JK, Chung SH, Choi YS, Bae CW

The chromosome 7q terminal deletion is a rare chromosomal disorder. It was first described in 1968 and has shown to have diverse clinical phenotypes. In this report, the phenotypes include...
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XYY syndrome: a 13-year-old boy with tall stature

Jo WH, Jung MK, Kim KE, Chae HW, Kim DH, Kwon AR, Kim HS

When evaluating the underlying causes of tall stature, it is important to differentiate pathologic tall stature from familial tall stature. Various pathologic conditions leading to adult tall stature include excess...
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Turner syndrome presented with tall stature due to overdosage of the SHOX gene

Seo GH, Kang E, Cho JH, Lee BH, Choi JH, Kim GH, Seo EJ, Yoo HW

Turner syndrome is one of the most common chromosomal disorders. It is caused by numerical or structural abnormalities of the X chromosome and results in short stature and gonadal dysgenesis....
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First Korean Case of SATB2-Associated 2q32-q33 Microdeletion Syndrome

Yu N, Shin S, Lee KA

No abstract available.
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A Korean Case of De Novo 18q Deletion Syndrome With a Large Atrial Septal Defect and Cyanosis

Kim YJ, Park TS, Han MY, Yoon HS, Choi YS

No abstract available.
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The First Korean Patient with Potocki-Shaffer Syndrome: A Rare Cause of Multiple Exostoses

Sohn YB, Yim SY, Cho EH, Kim OH

Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including...
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Turner syndrome with spinal hemorrhage due to vascular malformation

Yu MK, Jung MK, Kim KE, Kwon AR, Chae HW, Kim DH, Kim HS

Turner syndrome (TS) is a relatively common chromosomal disorder and is associated with a range of comorbidities involving the cardiovascular system. Vascular abnormalities, in particular, are a common finding in...
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Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene

Jung JY, Yang S, Jeong EH, Lee HC, Lee YM, Han HS, Yi KH

Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY...
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A Case of Chromosome 1q44 Deletion with Microcephaly and Multiple Congenital Anomalies

Lee JE, Jung JS, Jeon GW, Sin JB

The 1q terminal deletion syndrome is a rare chromosomal disorder which was first reported by Mankinen et al. in 1976. This disorder has shown to have broad and diverse clinical...
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VACTERL Association with Meningomyelocele Combined with Trisomy 18 Syndrome

Kim YK, Lee JH, Jeon GW, Sin JB

  • KMID: 2312962
  • Neonatal Med.
  • 2014 Feb;21(1):74-78.
Vertebral, anal, cardiac, tracheo-esophageal, renal, and limb(VACTERL) association is defined as the presence of at least three of the above-mentioned six manifestations. An estimated incidence of the VACTERL association is...
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Overgrowth Syndrome with 9q22.3 Microdeletion Detected by Microarray Comparative Genomic Hybridization

Park YJ, Park SB, Kim SM, Chae YJ, Kim JD, Jung CL

Microdeletion of 9q22.3 is a rare chromosomal disorder characterized by body overgrowth, facial dysmorphic features and psychomotor delay. The presence of genomic microdeletion or microdu-plication can not be identified by...
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