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A de novo Proximal 6q Deletion Confirmed by Array Comparative Genomic Hybridization
우광숙,김지은,김경은,김묘징,유재호,안현숙,Lisa G. Shaffer,한진영 대한진단검사의학회 2010 Annals of Laboratory Medicine Vol.30 No.1
Deletions of chromosome 6q, particularly in the proximal region, are relatively rare. Here, we report on a de novo interstitial deletion of (6)(q13q16.2) in a girl with facial dysmorphism, congenital hip dislocation, porencephaly, and brain atrophy. Array comparative genomic hybridization analysis showed arr 6q13q16.2(73,378,824-99,824,130), demonstrating higher resolution than the conventional cytogenetic findings, del(6)(q12q15). The clinical data were analyzed and compared with those of similar patients previously reported in the literature. (Korean J Lab Med 2010;30:84-8)
한진영,김경희,한명석,제구화,김중표,Lisa G.Shaffer 대한진단검사의학회 2003 Annals of Laboratory Medicine Vol.23 No.1
삼염색체성 18 증후군의 빈도에 관한 정확한 자료는 부족하지만 다운 증후군의 재발 빈도인 1% 보다는 낮을 것이라고 추정된
A Case of Near-triploidy in Myelodysplastic Syndrome with del(5q) Combined with del(1p) and del(13q)
Bo-Ram Kim,Ji-Eun Kim,Kwang-Sook Woo,김경희,Jeong-Man Kim,Suee Lee,Lisa G. Shaffer,한진영 대한진단검사의학회 2012 Annals of Laboratory Medicine Vol.32 No.4
Numerical and structural chromosomal abnormalities are common in hematological malignancies. Near-triploidy (58-80 chromosomes) is a numerical abnormality observed in 3% of adult cases of acute lymphoblastic leukemia. Near-triploidy is rare in myeloid lineage hematologic malignancies and compared to near-triploidy in lymphoid malignancies, neartriploidy in myeloid malignancies is associated with poor outcomes. Few studies on neartriploidy in myelodysplastic syndrome (MDS) have been reported, and the clinicopathologic significance of this condition is still unclear. Here, we report a novel case of MDS with near-triploidy and multiple structural chromosomal abnormalities: del(5q) combined with del(1p) and del(13q). These abnormalities were detected by cytogenetic analysis with array comparative genomic hybridization (CGH). Our results suggest that array CGH can be a useful tool for detecting chromosomal abnormalities in patients with MDS.
A Rare Case of Acute Lymphoblastic Leukemia with t(12;17)(p13;q21).
Kim, Ji Eun,Woo, Kwang Sook,Kim, Kyung Eun,Kim, Sung Hyun,Park, Joo In,Shaffer, Lisa G,Han, Jin Yeong 대한진단검사의학회 2010 Annals of Laboratory Medicine Vol.30 No.3
<P>Patients with ALL rarely present with t(12;17)(p13;q21) as the primary clonal abnormality; this abnormality is associated with the expression of myeloid antigens. In this study, we have reported presumably the first case of this chromosomal abnormality in Korea, thereby facilitating the delineation of a distinct subtype of ALL. A 57-yr-old woman was referred to our hospital because of pancytopenia. Peripheral blood examination showed 55% blasts. The bone marrow was markedly hypercellular, and about 82.4% of all nucleated cells were blasts. The results of immunophenotyping and cytochemical staining suggested early precursor B-ALL. Cytogenetic analysis of the bone marrow cells showed a complex karyotype, including a reciprocal translocation between the short arm of chromosome 12 and the long arm of chromosome 17, t(12;17)(p13;q21). Data from array comparative genomic hybridization were almost consistent with the cytogenetic findings.</P>
t(111)(q32q23) 균형전좌 임부에서 반복 발생한 Partial Trisomy 1q
송근아(Geun A Song),곽봉규(Bong Gyu Kwak),차문석(Moon Seok Cha),제구화(Goo Hwa Je),한진영(Jin Yeong Han),(Lisa G. Shaffer) 대한산부인과학회 2000 Obstetrics & Gynecology Science Vol.43 No.2
Abnormal offsprings from balanced translocation carriers usually inherit only one of the translocated products and are therefore partially trisomic for one chromosome and partially monosomic for another. Partial trisomy 1q usually demonstrates fetal growth restriction and anomalies of head, face, urogenital tract, heart, finger and toes with a wide range of characteristics and severities. It has been reported in a few individuals in the world and this is the first report of partial trisomy 1q in Korea. We present the case of recurrent partial trisomy 1q in maternal balanced translocation which was prenatally diagnosed by amniocentesis with fluorescence in situ hybridization(FISH) based on abnormal ultrasonographic findings and poor obstetric history.