Korean Journal of Laboratory Medicine最新文献

{"title":"Overlapping presence of macroamylasemia and hyperamylasemia in acute pancreatitis.","authors":"Sun Young Cho, Anbok Lee, Hee Joo Lee, Jin-Tae Suh","doi":"10.3343/kjlm.2011.31.2.98","DOIUrl":"https://doi.org/10.3343/kjlm.2011.31.2.98","url":null,"abstract":"Accurate interpretation of elevated amylase levels is essential, especially for patients presenting with an overlapping pancreatic or liver disease or for patients with a history of these diseases [1]. In this study, we have described an unusual case of macroamylasemia that occurred immediately after acute pancreatitis. On March 9, 2010, a 56-yr-old Korean man was admitted to the emergency department because of confusion and delirium. He had previously been hospitalized for 4 months because of alcoholic cirrhosis and had been discharged 5 days prior to this admission. During the 4-month hospitalization, he had received treatment for esophageal variceal bleeding and acute pancreatitis. At that time, his serum amylase levels and lipase levels were 1,171 U/L and 298 U/L, respectively. Abdominal computed tomography images showed mild swelling of the pancreas and a cystic lesion (1.5 cm) in the pancreatic head (Fig. 1). The patient received therapy for acute pancreatitis. Although he showed improvement in symptoms and radiological findings at the time of discharge, on March 4, 2010, the serum amylase levels had increased to 1,882 U/L (Fig. 2). Five days later, the patient was readmitted because of altered mental status. Physical examinations revealed no abdominal pain and no rebound tenderness. The results of the blood biochemistry tests were as follows: total protein, 9.2 g/dL; albumin, 2.9 g/dL; amylase, 2,232 IU/L (25-125 IU/L); lipase, 61 IU/L (5.5-58 IU/L); total bilirubin, 2.39 mg/dL; direct bilirubin, 1.63 mg/dL; AST, 48 IU/L; ALT, 30 IU/L; alkaline phosphatase (ALP), 64 IU/L; gamma-glutamyl transpeptidase (GGT), 29 IU/L; and ammonia, 141 mg/dL. The serological tests yielded the following results: IgG, 3,850 mg/dL (700-1,600 mg/dL) and IgA, 664 mg/dL (70-400 mg/dL). After readmission, the urine amylase level was 54 IU/L (1-352 IU/L), and the amylase-creatinine clearance ratio (ACCR) was calculated to be 0.07%. Macroamylasemia was diagnosed on the basis of these findings. Serum amylase isoenzyme electrophoresis showed that the proportions of P-type and S-type amylases were 75.3% and 24.7%, respectively. Capillary serum protein electrophoresis revealed polyclonal gammopathy with a beta-gamma bridge pattern, which is a typical pattern in liver cirrhosis (Fig. 3). The patient's mental status returned to normal, and he is still in the hospital for continued management of liver cirrhosis. \u0000 \u0000 \u0000 \u0000Fig. 1 \u0000 \u0000Findings of abdominal computed tomography performed when the patient showed acute pancreatitis. A cystic lesion (arrows, 1.5 cm) in the pancreatic head region (A) and mild swelling of the pancreas (B) are observed. \u0000 \u0000 \u0000 \u0000 \u0000 \u0000Fig. 2 \u0000 \u0000Trends in the serum amylase and lipase levels from the time of diagnosis of acute pancreatitis (*) to the time of diagnosis of macroamylasemia (**). Serum amylase levels are high for about 4 months, while lipase levels fall near the upper reference limit. ... \u0000 \u0000 \u0000 \u0000 \u0000 \u0000Fig. 3 \u0000 \u0000Serum amylase isoenzyme electrophoresi","PeriodicalId":17890,"journal":{"name":"Korean Journal of Laboratory Medicine","volume":"31 2","pages":"98-100"},"PeriodicalIF":0.0,"publicationDate":"2011-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3343/kjlm.2011.31.2.98","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29800474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A rare case of microgranular acute promyelocytic leukemia associated with ider(17)(q10)t(15;17) in an old-age patient.","authors":"Min Jin Kim,&nbsp;Sun Young Cho,&nbsp;Gayoung Lim,&nbsp;Hoi Soo Yoon,&nbsp;Hee Joo Lee,&nbsp;Jin-Tae Suh,&nbsp;Juhie Lee,&nbsp;Woo-In Lee,&nbsp;Kyung Sam Cho,&nbsp;Tae Sung Park","doi":"10.3343/kjlm.2011.31.2.86","DOIUrl":"https://doi.org/10.3343/kjlm.2011.31.2.86","url":null,"abstract":"<p><p>We present a rare case of microgranular variant acute promyelocytic leukemia (APL) associated with ider(17)(q10)t(15;17)(q22;q12) of an old-age patient. The initial chromosome study showed a 46,XX,del(6)(?q21q25),der(15)t(15;17)(q22;q12),ider(17)(q10)t(15;17)[10]/47,sl,+ider(17)(q10)t(15;17)[3]/46,XX[16]. FISH signals from a dual color dual fusion translocation PML-RARA probe were consistent with the results of conventional cytogenetics. Because of the rarity of ider(17)(q10)t(15;17) in microgranular APL, further studies on both gene dosage effect of this chromosomal abnormality and the influence of ider(17)(q10)t(15;17) on clinical features such as prognosis, survival, and treatment response of APL cases are recommended.</p>","PeriodicalId":17890,"journal":{"name":"Korean Journal of Laboratory Medicine","volume":"31 2","pages":"86-90"},"PeriodicalIF":0.0,"publicationDate":"2011-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3343/kjlm.2011.31.2.86","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29800471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multilocus sequence typing for Candida albicans isolates from candidemic patients: comparison with Southern blot hybridization and pulsed-field gel electrophoresis analysis.","authors":"Youn Myoung,&nbsp;Jong Hee Shin,&nbsp;Jin Sol Lee,&nbsp;Soo Hyun Kim,&nbsp;Myung Geun Shin,&nbsp;Soon Pal Suh,&nbsp;Dong Wook Ryang","doi":"10.3343/kjlm.2011.31.2.107","DOIUrl":"https://doi.org/10.3343/kjlm.2011.31.2.107","url":null,"abstract":"<p><strong>Background: </strong>We evaluated the efficacy of multilocus sequence typing (MLST) for assessing the genetic relationship among Candida albicans isolates from patients with candidemia in a hospital setting.</p><p><strong>Methods: </strong>A total of 45 C. albicans isolates from 21 patients with candidemia were analyzed. The MLST results were compared with results obtained by Southern blot hybridization (C1 fingerprinting) and pulsed-field gel electrophoresis (PFGE). PFGE analysis included karyotyping and restriction endonuclease analysis of genomic DNAs using BssHII (REAG-B) and SfiI (REAG-S).</p><p><strong>Results: </strong>The 45 isolates yielded 20 unique diploid sequence types (DSTs) by MLST, as well as 12 karyotypes, 15 REAG-B patterns, 13 REAG-S patterns, and 14 C1 fingerprinting types. Microevolution among intra-individual isolates was detected in 6, 5, 3, 5, and 7 sets of isolates by MLST (1 or 2 allelic differences), REAG-B, REAG-S, C1 fingerprinting, and a combination of all methods, respectively. Among 20 DSTs, 17 were unique, and 3 were found in more than 1 patient. The results of 2 DSTs obtained from 9 patient isolates were in agreement with REAG and C1 fingerprinting patterns. However, the remaining DST, which was shared by 2 patient isolates, showed 2 different PFGE and C1 fingerprinting patterns. In addition, 3 sets of isolates from different patients, which differed in only 1 or 2 alleles by MLST, also exhibited different PFGE or C1 fingerprinting patterns.</p><p><strong>Conclusions: </strong>MLST is highly discriminating among C. albicans isolates, but it may have some limitations in typing isolates from different patients, which may necessitate additional analysis using other techniques.</p>","PeriodicalId":17890,"journal":{"name":"Korean Journal of Laboratory Medicine","volume":"31 2","pages":"107-14"},"PeriodicalIF":0.0,"publicationDate":"2011-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3343/kjlm.2011.31.2.107","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29801024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of bacteremia by Neisseria gonorrhoeae coincident with massive hemorrhage of esophageal varices.","authors":"Dahae Won,&nbsp;Dongheui An,&nbsp;Mi-Na Kim,&nbsp;Young Sang Lee","doi":"10.3343/kjlm.2011.31.2.118","DOIUrl":"https://doi.org/10.3343/kjlm.2011.31.2.118","url":null,"abstract":"<p><p>A 42-yr-old man with hepatitis B virus associated liver cirrhosis was admitted to the emergency room because of multiple seizures, a history of chills and myalgia over the previous 2 weeks, and 3 days of melena. He was febrile with a temperature of 38.0°C. There were no symptoms and signs related to the genitourinary system, skin, or joints. Three sets of blood cultures were obtained and oxidase-positive, gram-negative diplococci were detected after 25.9-26.9 hr of incubation in all aerobic vials. The organism was positive for catalase and oxidase, and was identified as Neisseria gonorrhoeae, using a Vitek Neisseria-Haemophilus Identification card (bioMérieux Vitek, Inc., USA). Further, 16S rRNA sequencing of this isolate revealed a 99.9% homology with the published sequence of N. gonorrhoeae strain NCTC 83785 (GenBank Accession No. NR_026079.1). Acute bleeding by variceal rupture seems to be a likely route of introduction of N. gonorrhoeae from the mucosa into the blood. To the best of our knowledge, this is the first case of gonococcal bacteremia in Korea.</p>","PeriodicalId":17890,"journal":{"name":"Korean Journal of Laboratory Medicine","volume":"31 2","pages":"118-21"},"PeriodicalIF":0.0,"publicationDate":"2011-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3343/kjlm.2011.31.2.118","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29801026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Three-way translocation of MLL/MLLT3, t(1;9;11)(p34.2;p22;q23), in a pediatric case of acute myeloid leukemia.","authors":"Kyung Ran Jun,&nbsp;Jeong Nyeo Lee,&nbsp;Jeong A Park,&nbsp;Hye Ran Kim,&nbsp;Jeong Hwan Shin,&nbsp;Seung Hwan Oh,&nbsp;Ja Young Lee,&nbsp;Sae Am Song","doi":"10.3343/kjlm.2011.31.2.127","DOIUrl":"https://doi.org/10.3343/kjlm.2011.31.2.127","url":null,"abstract":"<p><p>The chromosome band 11q23 is a common target region of chromosomal translocation in different types of leukemia, including infantile leukemia and therapy-related leukemia. The target gene at 11q23, MLL, is disrupted by the translocation and becomes fused to various translocation partners. We report a case of AML with a rare 3-way translocation involving chromosomes 1, 9, and 11: t(1;9;11)(p34.2;p22;q23). A 3-yr-old Korean girl presented with a 5-day history of fever. A diagnosis of AML was made on the basis of the morphological evaluation and immunophenotyping of bone marrow specimens. Flow cytometric immunophenotyping showed blasts positive for myeloid lineage markers and aberrant CD19 expression. Karyotypic analysis showed 46,XX,t(1;9;11)(p34.2;p22;q23) in 19 of the 20 cells analyzed. This abnormality was involved in MLL/MLLT3 rearrangement, which was confirmed by qualitative multiplex reverse transcription-PCR and interphase FISH. She achieved morphological and cytogenetic remission after 1 month of chemotherapy and remained event-free for 6 months. Four cases of t(1;9;11)(v;p22;q23) have been reported previously in a series that included cases with other 11q23 abnormalities, making it difficult to determine the distinctive clinical features associated with this abnormality. To our knowledge, this is the first description of t(1;9;11) with clinical and laboratory data, including the data for the involved genes, MLL/MLLT3.</p>","PeriodicalId":17890,"journal":{"name":"Korean Journal of Laboratory Medicine","volume":"31 2","pages":"127-9"},"PeriodicalIF":0.0,"publicationDate":"2011-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3343/kjlm.2011.31.2.127","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29801028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of brain abscess caused by Propionibacterium acnes 13 months after neurosurgery and confirmed by 16S rRNA gene sequencing.","authors":"Soie Chung,&nbsp;Jun Sik Kim,&nbsp;Sang Won Seo,&nbsp;Eun Kyung Ra,&nbsp;Sei-Ick Joo,&nbsp;So Yeon Kim,&nbsp;Sung Sup Park,&nbsp;Eui-Chong Kim","doi":"10.3343/kjlm.2011.31.2.122","DOIUrl":"https://doi.org/10.3343/kjlm.2011.31.2.122","url":null,"abstract":"<p><p>Propionibacterium acnes is a gram-positive anaerobic bacillus and a normal inhabitant of the skin. Although it is often considered a contaminant of blood cultures, it can occasionally cause serious infections, including postoperative central nervous system infections. Here, we report the case of a 70-yr-old man who developed a large cerebral abscess caused by P. acnes 13 months after neurosurgery. Immediate gram staining of the pus from his brain revealed the presence of gram-positive coccobacilli. However, colony growth was observed only after 5 days of culture. Therefore, we performed 16S rRNA gene sequencing of the pus specimen. The isolate was identified as P. acnes. The colonies developed 9 days after the initial culture. The API Rapid ID 32A test (bioMérieux, France) was performed using a colony, but an unacceptable profile was obtained. Then, the pus was transferred into the enrichment broths of the BACTEC FX (Becton Dickinson, USA) and BacT/Alert 3D (bioMérieux, Organon Teknika, USA) systems, but only the BACTEC FX system could detect growth after 5 days. We performed 16S rRNA gene sequencing and API Rapid 32A profiling with a colony recovered from Brucella agar, which was inoculated with the microbial growth in the enrichment broth from the BACTEC FX system. The organism was identified as P. acnes by both methods. This case suggests that 16S rRNA gene sequencing may be a useful alternative for identifying slowly growing P. acnes from specimens that do not show growth after 5 days of culture.</p>","PeriodicalId":17890,"journal":{"name":"Korean Journal of Laboratory Medicine","volume":"31 2","pages":"122-6"},"PeriodicalIF":0.0,"publicationDate":"2011-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3343/kjlm.2011.31.2.122","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29801027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive analysis of blood culture performed at nine university hospitals in Korea.","authors":"Jeong Hwan Shin,&nbsp;Sae Am Song,&nbsp;Mi-Na Kim,&nbsp;Nam Yong Lee,&nbsp;Eui-Chong Kim,&nbsp;Sunjoo Kim,&nbsp;Sun-Hoi Koo,&nbsp;Nam Hee Ryoo,&nbsp;Jae-Seok Kim,&nbsp;Ji-Hyun Cho","doi":"10.3343/kjlm.2011.31.2.101","DOIUrl":"https://doi.org/10.3343/kjlm.2011.31.2.101","url":null,"abstract":"<p><strong>Background: </strong>Optimal blood culture performance is critical for successful diagnosis and treatment of sepsis. To understand the status of blood culture, we investigated several aspects of the procedure at 9 university hospitals.</p><p><strong>Methods: </strong>The process of ordering blood culture sets and sampling volume for adults and children was investigated from January 2010 to April 2010, while the positive rate of detection and growth of skin contaminants were compared in 2009. Microbial growth in aerobic and anaerobic bottles was investigated prospectively.</p><p><strong>Results: </strong>A majority of the hospitals used 2 sets of bottles for adults and 1 bottle for children. The average blood volume in each set was 7.7 mL for adults and 2.1 mL for children. The positive rate of microorganisms was 8.0%, and the isolation rate of the normal flora of the skin was 2.1%. Bacterial growth rates in aerobic and anaerobic bottles only were 31.8% and 24.5% respectively.</p><p><strong>Conclusions: </strong>Ordering blood culture sets and sampling volumes did not comply with CLSI guidelines. However, the rate of positive cultures and skin contamination rates were acceptable. Anaerobic bottles are useful in enhancing the yield of microorganisms.</p>","PeriodicalId":17890,"journal":{"name":"Korean Journal of Laboratory Medicine","volume":"31 2","pages":"101-6"},"PeriodicalIF":0.0,"publicationDate":"2011-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3343/kjlm.2011.31.2.101","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29801023","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of therapy-related acute lymphoblastic leukemia with t(11;19)(q23;p13.3) and MLL/MLLT1 gene rearrangement.","authors":"Byong-Joon Yoo,&nbsp;Myung-Hyun Nam,&nbsp;Hwa-Jung Sung,&nbsp;Chae-Seung Lim,&nbsp;Chang-Kyu Lee,&nbsp;Yun-Jung Cho,&nbsp;Kap-No Lee,&nbsp;Soo-Young Yoon","doi":"10.3343/kjlm.2011.31.1.13","DOIUrl":"https://doi.org/10.3343/kjlm.2011.31.1.13","url":null,"abstract":"<p><p>Therapy-related ALL (t-ALL) is a rare secondary leukemia that develops after chemotherapy and/or radiotherapy for primary malignancies. Chromosomal 11q23 abnormalities are the most common karyotypic alterations in t-ALL. The t(11;19)(q23;p13) aberration is extremely rare and has not been confirmed at the molecular genetic level. Here, we report a case of t-ALL with t(11;19)(q23;p13.3) and MLL-MLLT1 (alias ENL) gene rearrangement confirmed by cytogenetic analysis, multiplex reverse transcription-PCR (multiplex RT-PCR), and DNA sequencing in a patient who had undergone treatment for breast cancer. A 40-yr-old woman developed acute leukemia 15 months after undergoing 6 cycles of adjuvant chemotherapy (doxorubicin 60 mg/m² and cyclophosphamide 600 mg/m²), radiation therapy (dose, 5,900 cGy), and anticancer endocrine therapy with tamoxifen. The complete blood cell counts and bone marrow examination showed increased blasts and the blasts showed B lineage immunophenotype (positive for CD19, CD34, and cytoplasmic CD79a). Cytogenetic analysis revealed the karyotype 47,XX,+X,t(11;19)(q23;p13.3)[4]/46,XX[16]. FISH analyses, multiplex RT-PCR, and DNA sequencing confirmed the MLL-MLLT1 gene rearrangement. The patient underwent induction chemotherapy with fractionated cyclophosphamide, vincristine, doxorubicin, and dexamethasone (Hyper-CVAD) and achieved complete remission. Subsequently, she underwent consolidation chemotherapy, but died of brain ischemia in the pons and the region of the middle cerebral artery. To our knowledge, this is the first case report of t-ALL with t(11;19)(q23;p13.3) and the MLL-MLLT1 gene rearrangement.</p>","PeriodicalId":17890,"journal":{"name":"Korean Journal of Laboratory Medicine","volume":"31 1","pages":"13-7"},"PeriodicalIF":0.0,"publicationDate":"2011-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3343/kjlm.2011.31.1.13","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29603905","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Plant root hair in tap water: a potential cause for diagnostic confusion.","authors":"Sadia Shakoor,&nbsp;Mohammad Wasay,&nbsp;Afia Zafar,&nbsp;Mohammad Asim Beg","doi":"10.3343/kjlm.2011.31.1.44","DOIUrl":"https://doi.org/10.3343/kjlm.2011.31.1.44","url":null,"abstract":"<p><p>Plant root hairs are commonly found artifacts in parasitology specimens and may be confused with helminthes by an untrained eye. We report a case of brain tuberculoma where the tissue sample was contaminated with root hair derived from tap water; the presence of this root hair, which mimicked a larva, led to diagnostic confusion. Therefore, tap water should be considered a source of root hair and vegetable matter.</p>","PeriodicalId":17890,"journal":{"name":"Korean Journal of Laboratory Medicine","volume":"31 1","pages":"44-6"},"PeriodicalIF":0.0,"publicationDate":"2011-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3343/kjlm.2011.31.1.44","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29603827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Miller-Dieker syndrome with der(17)t(12;17)(q24.33;p13.3)pat presenting with a potential risk of mis-identification as a de novo submicroscopic deletion of 17p13.3.","authors":"Young Jin Kim,&nbsp;Shin Yun Byun,&nbsp;Seon A Jo,&nbsp;Yong Beom Shin,&nbsp;Eun Hae Cho,&nbsp;Eun Yup Lee,&nbsp;Sang-Hyun Hwang","doi":"10.3343/kjlm.2011.31.1.49","DOIUrl":"https://doi.org/10.3343/kjlm.2011.31.1.49","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":17890,"journal":{"name":"Korean Journal of Laboratory Medicine","volume":"31 1","pages":"49-53"},"PeriodicalIF":0.0,"publicationDate":"2011-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3343/kjlm.2011.31.1.49","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29603829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}