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Two Cases of Smith-Magenis Syndrome with Tetralogy of Fallot Confirmed by FISH.

Jung Ho SUK ; Sang Gon LEE ; Jae Choon BAE ; Heung Jae LEE ; Sun Hee KIM

The Korean Journal of Laboratory Medicine.2005;25(5):361-364.

Smith-Magenis syndrome (SMS) is characterized by distinctive facial features, developmental delay, cognitive impairment, and behavioral abnormalities and associated with interstitial deletion of chromosome 17p11.2. We report 2 cases of SMS with tetralogy of Fallot. The first patient was reported having a normal conventional karyotype 7 years ago. However, as she grew up, she showed more compatible findings with SMS in behavior and phenotype. On the second cytogenetic study, interstitial deletion of 17p11.2 was detected by conventional banding technique which had 550 band resolution and it was confirmed by metaphase fluorescence in situ hybridization (FISH) using D17S258 SMS probe (Oncor, Gaithersburg, MD, USA). The second patient showed subtle phenotypic feature except microcephaly and cardiac anomalies was confirmed as SMS by cytogenetic analysis and FISH. We suggest that FISH should be performed not to overlook the submicroscopic deletion when SMS is clinically suspected, even though cytogenetist can not detect any anomalies on the conventional cytogenetics. A confirmatory diagnosis using FISH would be helpful in terms of guiding medical management and leading to proper genetic counseling.
Cytogenetic Analysis ; Cytogenetics ; Diagnosis ; Fluorescence ; Genetic Counseling ; Humans ; In Situ Hybridization ; Karyotype ; Metaphase ; Microcephaly ; Phenotype ; Smith-Magenis Syndrome* ; Tetralogy of Fallot*

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The Comparison of Restriction Fragment Mass Polymorphism with Sequencing Method for the Hepatitis C Virus Genotyping.

Hee Jung CHUNG ; Jin Hyuk YANG ; Sang Hyun HWANG ; Sun Pyo HONG ; Heung Bum OH

The Korean Journal of Laboratory Medicine.2005;25(5):352-360.

BACKGROUND: Hepatitis C virus (HCV) genotyping is of increasing the importance in the progression to liver cirrhosis and the outcome of antiviral therapy. Restriction fragment mass polymorphism (RFMP) method which is developed recently for HCV genotyping is known to report accurate result in mixed infection. We evaluated the performance of RFMP in HCV genotyping by comparing the result of direct sequencing. METHODS: Forty-three chronically HCV infected patients in Asan Medical Center were enrolled. HCV genotyping was performed by both RFMP and direct sequencing. The results were compared from the genotype level to the subtype level. RESULTS: In the genotype level, all the results (100%) were concordant. At the subtype level, however, 2 results (2/43, 4.7%) were disconcordant. Two cases were reported as single infection of type 1b by direct sequencing while RFMP reported as mixed infection of 1b with 1a and 1b with 1c, respectively. CONCLUSIONS: Both sequencing and RFMP assays were highly concordant. We suggest that RFMP is a novel method in HCV genotyping superior to sequencing or hybridization method especially in mixed infection.
Chungcheongnam-do ; Coinfection ; Genotype ; Hepacivirus* ; Humans ; Liver Cirrhosis

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Cryopreservation and Thawing of Red Blood Cells Using Haemonetics ACP 215.

Ok Ju JUNG ; Moon Jung KIM ; Mi Kyung LEE ; Hwa Ryung CHUNG ; Deok Ja OH ; A Hyun LIM ; Tae Hee HAN

The Korean Journal of Laboratory Medicine.2005;25(5):347-351.

BACKGROUND: The FDA has approved the storage of frozen red blood cells (RBCs) at -80degrees C for 10 years. After deglycerolization, the RBCs can be stored at 4degrees C for no more than 24 hours, because open systems are currently being used. We evaluated Haemonetics ACP 215, an automated, functionally closed system, for both the glycerolization and deglycerolization processes. METHODS: Thirty packed RBCs that had been glycerolized and stored at -80degrees C for 2 weeks were thawed, deglycerolized and resuspended in AS-3. The RBCs were then stored at 4degrees C for 2 weeks. For the evaluation of the procedure, RBC recovery rate, osmolarity, specific gravity, LDH, K+, Hb-2, 3 DPG, Hb-ATP, and plasma hemoglobin were tested at day 0 and day 14. RESULTS: The recovery rate of RBCs was 83.7+/-2.6% (78.9-88.8%). The Hb ATP and 2, 3-DPG of RBCs were 5.16+/-1.0 mol/g Hb and 10.4+/-2.4 mol/g Hb, respectively, at day 0. The supernatant K+, specific gravity, osmolarity, LDH were 1.3+/-0.6 mmol/L, 1.008+/-0.001, 295.0+/-3.1 mOsm/kgH2O, 175.0+/-39.0 unit/L, respectively. All measurements were acceptable to allow the RBCs deglycerolized on ACP 215 to be stored at 4degrees C for 14 days. The blood cultures were negative at day 0 and day 14. CONCLUSIONS: Haemonetics ACP 215 provides a closed, automated system for RBC glycerolization and deglycerolization. This study showed that the RBCs that were glycerolized and deglycerolized in the automated instrument and stored in AS-3 at 4degrees C for 14 days are of an acceptable quality.
Adenosine Triphosphate ; Cryopreservation* ; Erythrocytes* ; Glycerol ; Osmolar Concentration ; Plasma ; Specific Gravity

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Prevalence and Specificity of Unexpected Antibody Using Antibody Screening Test Including Dia and Mia Cells.

Nak Hyun SUNG ; Tae Young JEON ; Eun Yup LEE ; Joo Seop CHUNG ; Goon Jae CHO ; Hyung Hoi KIM

The Korean Journal of Laboratory Medicine.2005;25(5):340-346.

BACKGROUND: The purpose of this study was to examine the prevalence and distribution of unexpected antibodies detected in the Korean population with race-specific RBC panel cells. In spite of a relatively high prevalence of Dia and Mia antigen phenotype in the Korean and Southeast Asian population, there has been little documented research on the prevalence and clinical significance of anti-Dia and anti-Mia in Korea. METHODS: We analyzed the results of 17, 664 antibody screening tests performed during the recent 30-month period from March 2001 to September 2003. Antibodies were screened and identified by using LISS/Coombs gel card with DiaMed-ID system (DiaMed AG, Cressier, Morat, Switzerland) including Dia and Mia panel cells. RESULTS: The prevalence of unexpected antibodies was 1.2% (214/17, 664); antibodies detected most frequently were anti-Rh (74 patients), followed by anti-Lewis (21 patients) and anti-Dia (15 patients). Out of 6, 345 patients, anti-Mia was detected in three patients (0.047%). Anti-Dia and anti-Mia had the specificity of IgG. Anti-Dia was thought as an immune-mediated antibody, whereas anti-Mia was considered as a mixed type with immune and natural antibodies. CONCLUSIONS: This study shows that anti-Dia and anti-Mia antibodies are detected frequently in the Korean population; hence, it seems that Dia and Mia panel cells should be incorporated into antibody screening panels in Korea for safe transfusion.
Antibodies ; Asian Continental Ancestry Group ; Humans ; Immunoglobulin G ; Korea ; Mass Screening* ; Phenotype ; Prevalence* ; Sensitivity and Specificity*

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Discrepancy in Genotyping of Apolipoprotein E between Allele-Specific PCR and Fluorescence Resonance Energy Transfer or Sequencing.

Chang Hun PARK ; Seung Tae LEE ; Chang Seok KI ; Jong Won KIM

The Korean Journal of Laboratory Medicine.2010;30(3):325-328. doi:10.3343/kjlm.2010.30.3.325

The human apolipoprotein E (APOE) gene contains several single-nucleotide polymorphisms (SNPs) that are distributed across the gene. The genotype of the APOE gene has important implications as a risk factor for various diseases. We observed 2 cases in which the results of allele-specific PCR (AS-PCR) of the APOE gene were not consistent with those of fluorescence resonance energy transfer (FRET) or sequencing analysis. In these cases, genotyping by AS-PCR showed that patients were epsilon2 homozygotes, while sequencing analysis and FRET showed that they were epsilon2/epsilon3 heterozygotes. Herein, we describe the causes of the errors in genotyping and describe the significance of these errors.
Alleles ; Apolipoprotein E2/genetics ; Apolipoprotein E3/genetics ; Apolipoproteins E/*genetics ; *Fluorescence Resonance Energy Transfer ; Genotype ; Homozygote ; Humans ; *Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Risk Factors ; *Sequence Analysis, DNA

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A Girl with 15q Overgrowth Syndrome and dup(15)(q24q26.3) that Included Telomeric Sequences.

Maria de los Angeles GUTIERREZ-FRANCO ; Maria de la Luz MADARIAGA-CAMPOS ; Ana I VASQUEZ-VELASQUEZ ; Esmeralda MATUTE ; Roberto GUEVARA-YANEZ ; Horacio RIVERA

The Korean Journal of Laboratory Medicine.2010;30(3):318-324. doi:10.3343/kjlm.2010.30.3.318

Distal 15q trisomy or tetrasomy is associated with a characteristic phenotype that includes mild to moderate intellectual disability, abnormal behavior, speech impairment, overgrowth, hyperlaxity, long face, prominent nose, puffy cheeks, pointed chin, small ears, and hand anomalies (mainly arachno- and camptodactyly). We present the case of a 13-yr-old girl with the main clinical features of 15q overgrowth syndrome and a 46,XX,dup(15)(q24q26.3)[117]/46,XX[3].ish dup(15)(q24q26.3) (SNPRN+,PML+,subtel++,tel++) de novo karyotype. The findings in this case are consistent with those in the previous distal 15q trisomy cases that presented with overgrowth and mental retardation. Further, the rearranged chromosome had a double set of directly oriented telomeric and subtelomeric sequences.
Adolescent ; *Chromosome Aberrations ; *Chromosomes, Human, Pair 15 ; Female ; Growth Disorders/diagnosis/*genetics ; Humans ; In Situ Hybridization, Fluorescence ; Mental Retardation/diagnosis/*genetics ; Syndrome ; Telomere/*chemistry

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A Case of Partial Trisomy 2p23-pter Syndrome with Trisomy 18p Due to a de novo Supernumerary Marker Chromosome.

Jong Ho LEE ; Hee Soon CHO ; Eun Sil LEE ; Bo Chan JUNG

The Korean Journal of Laboratory Medicine.2010;30(3):312-317. doi:10.3343/kjlm.2010.30.3.312

Partial trisomy 2p is a rare but relatively well-defined syndrome with distinctive clinical features, including marked psychomotor delay, dysmorphic face, and congenital heart disease. The phenotype of trisomy 18p is variable, from normal appearance to moderate mental retardation. Most cases of trisomy 2p and trisomy 18p result from the inheritance of an unbalanced segregant from a balanced parental translocation or due to de novo duplication. Here, we present the first report of a combined partial trisomy 2p and trisomy 18p due to a supernumerary marker chromosome (SMC). The final karyotype of the patient was 47,XX,+der(18)t(2;18)(p23.1;q11.1)[22]/46,XX[8]. The patient had typical dysmorphic features of partial trisomy 2p23-pter syndrome and congenital heart disease. SMCs are remarkably variable in euchromatic DNA content and mosaicism level. The precise identification of the origin and composition of SMCs is essential for genotype-phenotype correlation and genetic counseling.
Abnormalities, Multiple/*genetics ; Chromosomes, Human, Pair 18 ; Chromosomes, Human, Pair 2 ; Cytogenetic Analysis ; Female ; Genetic Counseling ; Heart Defects, Congenital/*genetics ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Karyotyping ; Syndrome ; *Trisomy/diagnosis

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Meta-Analysis for the Pooled Sensitivity and Specificity of Hepatitis B Surface Antigen Rapid Tests.

Sang Hyun HWANG ; Heung Bum OH ; Sung Eun CHOI ; Hyung Hoi KIM ; Chulhun L CHANG ; Eun Yup LEE ; Han Chul SON

The Korean Journal of Laboratory Medicine.2008;28(2):160-168. doi:10.3343/kjlm.2008.28.2.160

BACKGROUND: Although hepatitis B surface antigen (HBsAg) rapid test based on immunochromatographic assay (ICA) is now widely used, the test has not been evaluated sufficiently enough to validate its performance. Thus, it is important to summarize the clinical performance of the test kits. In this study, we performed meta-analysis for the performance of the HBsAg rapid tests. METHODS: PubMed database was searched using keywords about the accuracy of diagnostic tests for hepatitis B virus (HBV) infection. Two investigators assessed methodological quality utilizing standards for reporting of diagnostic accuracy studies (STARD) checklist. After performing a heterogeneity test, we obtained pooled sensitivity and specificity. Positive and negative predictive values (PPV and NPV) were simulated according to HBV prevalence. RESULTS: A total of 38 studies was selected from 10 papers. The quality scores ranged from 3 to 13 (median, 8). Kappa value was good (0.85). The performance of the 38 studies was heterogeneous. When 33 studies with better quality from 7 papers were re-selected, the pooled sensitivity and specificity were 98.07% (95% confidence interval, CI: 97.67-98.47%) and 99.56% (95% CI: 99.21-99.91%), respectively. With an HBV prevalence of 5%, PPV and NPV were predicted to be 92.14% and 99.90%, respectively. CONCLUSIONS: In view of high HBV prevalence in Korea, it is thought that the HBsAg rapid test can be used for HBV screening in small-sized laboratories or for epidemiologic studies. This study should be helpful in establishing a guideline for the proper performance evaluation of the HBsAg rapid tests.
Chromatography/methods ; Hepatitis B/*diagnosis ; Hepatitis B Surface Antigens/*blood ; Humans ; Sensitivity and Specificity ; Time Factors

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A Case of Partial Trisomy 9pter --> q13 due to Paternal Balanced Translocation t (9;21) (q13;q21).

Kwang Sook WOO ; Kyung Eun KIM ; Eun Young KWON ; Joong Pyo KIM ; Jin Yeong HAN

The Korean Journal of Laboratory Medicine.2008;28(2):155-159. doi:10.3343/kjlm.2008.28.2.155

Trisomy 9p is one of the most frequent autosomal anomalies compatible with a long survival rate. Clinical characteristics are craniofacial dysmorphisms including hypertelorism, prominent nose, deepset eyes, and down-slanting palpebral fissures. The degree of clinical severity in trisomy 9 roughly correlates with the extent of trisomic chromosomal material. If the trisomic segments include the long arm of chromosome 9, clinical findings may not fit into the trisomy 9p but rather resemble trisomy 9 mosaic syndrome and are associated with muscular and cardiac anomalies. Therefore, breakpoints as well as clinical findings need to be precisely defined for differential diagnosis. Cases with trisomy 9p, especially involving proximal 9q, are very rare in Korea. The patient was a 1,920 g male infant born at 36 weeks 3 days of gestation to a 27-yr-old mother and 32-yr-old father after Cesarian section. The patient showed specific craniofacial anomalies, cardiac defects, and hand anomalies. Routine cytogenetic analysis, performed on peripheral blood using GTG banding, showed 46,XY,+der(9)t (9;21)(q13;q21),-21pat. Furthermore, FISH (Vysis Inc., USA) analysis with whole chromosome painting probes confirmed the derivative chromosome 9.
Abnormalities, Multiple/*genetics ; *Chromosomes, Human, Pair 21 ; *Chromosomes, Human, Pair 9 ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Karyotyping ; Male ; *Translocation, Genetic ; *Trisomy

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A Case of 46,XY Pure Gonadal Dysgenesis with Loss of the Sex-Determining Region of Y Chromosome.

Kui hyun YOON ; Young Jin LEE

The Korean Journal of Laboratory Medicine.2008;28(2):151-154. doi:10.3343/kjlm.2008.28.2.151

A 23-yr-old phenotypic female was seen for primary amenorrhea. Her pubic hair was relatively well developed and external genitalia showed normal female appearance, but breast development was retarded. Transvaginal ultrasonographic examination showed a small uterus with indistinct streak gonads, but both ovaries were not detected. Cytogenetic study revealed 46,XY. In FISH and PCR, the sex-determining region of Y chromosome (SRY) was not detected. We report here a case of 46,XY pure gonadal dysgenesis with loss of the SRY.
Adult ; Chromosomes, Human, Y ; Female ; *Gene Deletion ; *Genes, sry ; Gonadal Dysgenesis, 46,XY/*diagnosis/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Polymerase Chain Reaction

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