- A Case of 9p-Syndrome due to a Balanced Maternal Translocation t(9;16) (p22;p13.2)
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Kim KH, Sin SD, Han JY, Kim JM, Shaffer LG
- KMID: 2089458
- Korean J Clin Pathol.
- 1997 Aug;17(4):676-680.
The deletion 9p syndrome is a well characterized syndrome with about one hundred cases having been reported. Most patients have dysmorphic facial features, cardiac anomalies, and mental retardation. We report... -
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- Detection of a Familial Y/l5 Translocation by FISH, G-Banding, C-Banding, and Ag-NOR Stain
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Lee KM, Kim KH, Han JY, Je GH, Shaffer LG
- KMID: 2146218
- Korean J Clin Pathol.
- 1997 Dec;17(6):1176-1181.
Prenatal chromosome analysis of amniotic cells at 18 weeks of gestation showed a male fetus to carry a large 15p+ derivative chromosome inherited from his mother. Extra genetic material on... -
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- Recurrent Partial Trisomy 1q in Maternal Balanced Translocation t(1;11)(q32;q23)
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Song GA, Kwak BG, Cha MS, Je GH, Han JY, Shaffer LG
- KMID: 2261854
- Korean J Obstet Gynecol.
- 2000 Feb;43(2):338-342.
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... -
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- A De Novo Unbalanced Translocation t (5;7) (q33;p22) Carrying Partial Trisomy 5q and Partial Monosomy 7p
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Han JY, Kim KH, Hwang KG, Shaffer LG
- KMID: 2225886
- Korean J Clin Pathol.
- 1999 Jun;19(3):364-367.
Partial trisomy of the long arm of chromosome 5 distal to 5q33 is rare. Only 16 cases have so far been reported. We report on a three-year-old boy with microcephaly,... -
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- Prenatal Diagnosis of Recurrent Trisomy 18 Syndrome
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Han JY, Kim KH, Han MS, Je GH, Kim JP, Shaffer LG
- KMID: 1866524
- Korean J Lab Med.
- 2003 Feb;23(1):67-69.
Though data on the recurrent risk after the birth of one fetus or infant with trisomy 18 is sparse, it has been presumed that the recurrence risk would be lower... -
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- Male Infertility with Reciprocal Translocation t(1;21)(q11;p13)
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Han JY, Kim KH, Hwang TH, Moon SY, Kim JI, Shaffer LG
- KMID: 1560326
- Korean J Lab Med.
- 2002 Aug;22(4):286-288.
Reports of male infertility associated with autosomal translocations are rare. Cases involving translocations between chromosomes 1 and 21 are even rarer. We describe an azoospermic male with a reciprocal translocation... -
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- A de novo Proximal 6q Deletion Confirmed by Array Comparative Genomic Hybridization
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Woo KS, Kim JE, Kim KE, Kim MJ, Yoo JH, Ahn HS, Shaffer LG, Han JY
- KMID: 1096824
- Korean J Lab Med.
- 2010 Feb;30(1):84-88.
- doi: 10.3343/kjlm.2010.30.1.84
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... -
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- A Case of Near-triploidy in Myelodysplastic Syndrome with del(5q) Combined with del(1p) and del(13q)
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Kim BR, Kim JE, Woo KS, Kim KH, Kim JM, Lee S, Shaffer LG, Han JY
- KMID: 1380090
- Ann Lab Med.
- 2012 Jul;32(4):294-297.
- doi: 10.3343/alm.2012.32.4.294
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... -
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- Detection of the Pallister-Killian Syndrome by G-Banding and FISH in Cultured Skin Fibroblasts
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Han JY, Kim TG, Shaffer LG, FACMG
- KMID: 2089519
- Korean J Clin Pathol.
- 1998 Jun;18(2):284-287.
Pallister-Killian syndrome is a rare disorder characterized by multiple congenital anomalies, coarse face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, however, tissue cultures show varying... -
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- Rhabdomyosarcoma Presenting as Acute Leukemia Identified by Cytogenetic and FISH Analysis of Bone Marrow
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Han JY, Kim KH, Kim JS, Kim HJ, Lee YS, Shaffer LG
- KMID: 2143355
- Korean J Hematol.
- 2000 Nov;35(3-4):297-301.
Rhabdomyosarcoma is the most common malignant soft tissue tumor in children. In adults, however, it is extremely rare, with only a few cases observed. We describe a case of an... -
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- A Rare Case of Acute Lymphoblastic Leukemia with t(12;17)(p13;q21)
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Kim JE, Woo KS, Kim KE, Kim SH, Park JI, Shaffer LG, Han JY
- KMID: 1781621
- Korean J Lab Med.
- 2010 Jun;30(3):239-243.
- doi: 10.3343/kjlm.2010.30.3.239
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... -
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