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*

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

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

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*

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

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

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

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid beta-oxidation. It is characterized by hypoketotic hypoglycemia, hyperammonemia, seizure, coma, and sudden infant death syndrome-like illness. The most frequently isolated mutation in the acyl-CoA dehydrogenase, medium-chain (ACADM) gene of Caucasian patients with MCADD is c.985A>G, but ethnic variations exist in the frequency of this mutation. Here, we describe 2 Korean pediatric cases of MCADD, which was detected during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The levels of medium-chain acylcarnitines, including octanoylcarnitine (C8), hexanoylcarnitine (C6), and decanoylcarnitine (C10), were typically elevated. Molecular studies revealed that Patient 1 was a compound heterozygote for c.449_452delCTGA (p.Thr150ArgfsX4) and c.461T>G (p.L154W) mutations, and Patient 2 was a compound heterozygote for c.449_452delCTGA (p.Thr150ArgfsX4) and c.1189T>A (p.Y397N) mutations. We detected asymptomatic patients with MCADD by using a newborn screening test and confirmed it by ACADM mutation analysis. This report presents evidence of the biochemical and molecular features of MCADD in Korean patients and, to the best of our knowledge, this is the first report of the c.461T>G mutation in the ACADM gene.
Acyl-CoA Dehydrogenase/chemistry/deficiency/genetics ; Asian Continental Ancestry Group/*genetics ; Base Sequence ; Biological Markers/blood ; Carnitine/analogs & derivatives/blood ; DNA Mutational Analysis ; Exons ; Female ; Gene Deletion ; Heterozygote ; Humans ; Infant, Newborn ; Lipid Metabolism, Inborn Errors/diagnosis/genetics ; Male ; Mutation ; Neonatal Screening ; Republic of Korea ; Tandem Mass Spectrometry

Miller-Dieker syndrome involves a severe type of lissencephaly, which is caused by defects in the lissencephaly gene (LIS1). We report the case of a female infant with der(17)t(12;17)(q24.33;p13.3)pat caused by an unbalanced segregation of the parental balanced translocation of 17p with other chromosomes. The proband presented with facial dysmorphism, arthrogryposis, and intrauterine growth retardation. Most cases of Miller-Dieker syndrome have a de novo deletion involving 17p13.3. When Miller-Dieker syndrome is caused by an unbalanced translocation, mild-to-severe phenotypes occur according to the extension of the involved partner chromosome. However, a pure partial monosomy derived from a paternal balanced translocation is relatively rare. In this case, the submicroscopic cryptic deletion in the proband was initially elucidated by FISH, and karyotype analysis did not reveal additional chromosome abnormalities such as translocation. However, a family history of recurrent pregnancy abnormalities strongly suggested familial translocation. Sequential G-banding and FISH analysis of the father's chromosomes showed that the segment of 17p13.3-->pter was attached to the 12qter. Thus, we report a case that showed resemblance to the findings in cases of a nearly pure 17p deletion, derived from t(12;17), and delineated by whole genome array comparative genomic hybridization (CGH). If such cases are incorrectly diagnosed as Miller-Dieker syndrome caused by de novo 17p13.3 deletion, the resultant improper genetic counseling may make it difficult to exactly predict the potential risk of recurrent lissencephaly for successive pregnancies.
Abnormalities, Multiple/genetics ; Adult ; Brain/abnormalities ; Chromosome Banding ; Chromosome Segregation ; *Chromosomes, Human, Pair 12 ; *Chromosomes, Human, Pair 17 ; Classical Lissencephalies and Subcortical Band Heterotopias/*diagnosis ; Female ; Gene Deletion ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Karyotyping ; Magnetic Resonance Imaging ; Male ; Phenotype ; Risk ; Translocation, Genetic

Although Corynebacterium amycolatum can cause opportunistic infections, it is commonly considered as contaminant. In this report, we present a case of bacteremia caused by C. amycolatum with a novel mutation in the gyrA gene that confers high-level quinolone resistance to the organism.
Aged, 80 and over ; Anti-Bacterial Agents/*pharmacology ; Bacteremia/*microbiology ; Corynebacterium/drug effects/*genetics/isolation & purification ; Corynebacterium Infections/*diagnosis/drug therapy ; DNA Gyrase/*genetics ; Drug Resistance, Bacterial/genetics ; Fluoroquinolones/*pharmacology ; Humans ; Male ; Microbial Sensitivity Tests ; Mutation ; Vancomycin/therapeutic use