- Acute promyelocytic leukemia with normal karyotype initially diagnosed on bone marrow touch imprints
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Park J
- KMID: 2172754
- Blood Res.
- 2015 Sep;50(3):130-130.
- doi: 10.5045/br.2015.50.3.130
No abstract available. -
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- A case of true hermaphroditism with 46, XX/47, XXX karyotype
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Kim SG, Paik SK, Kim TK
- KMID: 1913488
- Korean J Urol.
- 1992 Feb;33(1):173-175.
True hermaphroditism is characterized by the coexistence of testicular and ovarian tissue. Authors experienced a case of true hermaphroditism which was confirmed an ovary in the left abdomen and testis... -
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- Esthesioneuroblastoma in a boy with 47, XYY karyotype
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Jo HC, Lee SW, Jung HJ, Park JE
- KMID: 2362265
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S92-S95.
- doi: 10.3345/kjp.2016.59.11.S92
Neuroblastomas are sometimes associated with abnormal constitutional karyotypes, but the XYY karyotype has been rarely described in neuroblastomas. Here, we report a case of an esthesioneuroblastoma in a boy with... -
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- A Cytogenetic Survey of the Mentally Retarded Children
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Ju KS, Lee HK
- KMID: 2261774
- Korean J Obstet Gynecol.
- 2000 Jan;43(1):11-16.
OBJECTIVE: A cytogenetic survey of the mentally retarded children in Seoul City Welfare Center for the Mentally Retarded and St Peter school has been undertaken. METHODS: The chromosome analysis was... -
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- A Case of Pregnant Woman with 46 , X , del ( X ) ( q 26 ) Turner Karyotype Whose Fetus Shows the Same Karyotype
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Oh BH, Lee JM, Lee JH, Lee KH, Jung AY, Ryou C, Kwon M
- KMID: 2261906
- Korean J Obstet Gynecol.
- 2000 Apr;43(4):721-724.
Turner syndrome with abnormalities of X chromosome is generally characterized by gonadal dysgenesis causing premature ovarian failure, primary and secondary amenorrhea. Premature ovarian failure is often caused by X chromosome aberrations. It... -
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- Various endocrine disorders in children with t(13;14)(q10;q10) Robertsonian translocation
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Choi BH, Kim UH, Lee KS, Ko CW
- KMID: 2266361
- Ann Pediatr Endocrinol Metab.
- 2013 Sep;18(3):111-115.
- doi: 10.6065/apem.2013.18.3.111
PURPOSE: 45,XY,t(13;14)(q10;q10) karyotype can suggest infertility associated with more or less severe oligospermia in male adults. In addition, 45,XX,t(13;14)(q10;q10) karyotype carries reproductive risks such as miscarriage or infertility in female... -
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- Cytogenetic Analysis of 467 Cases of Amniocetesis
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Hwong SK, Son SM, Lee JG, Lee MG, Bae YC, Han YT
- KMID: 2071989
- Korean J Perinatol.
- 1999 Jun;10(2):189-193.
OBJECTIVE: The study of 467 cases of amniocentesis have been done at the department of Genetics, Taegu Cheil Hospital from Oct. 1997 to May 1999 for the purpose of analysis... -
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- A Case of 18 Ring Chromosome
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Bin JH, Song MY, Lee IG, Lee WB, Lee BC
- KMID: 1606282
- J Korean Pediatr Soc.
- 2001 Jun;44(6):683-686.
A ring 18 chromosome(18r) karyotype is a rare disorder characterized by short stature, obesity, microcephaly, mental retardation, micropenis, cryptorchidism, hypertelorism, epicanthal folds, micrognathia, and small hands with short tapering fingers.... -
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- Chromosomal Analysis of Abortus Chorionic Villi in Missed Abortion
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Choi YY, Kim HM, Son YS, Kim JI
- KMID: 2261108
- Korean J Obstet Gynecol.
- 1998 Aug;41(8):2097-2101.
Chromosomal analysis was done on abortus chorionic villi samples obtained 20 women with history of missed abortion from Sep, 1995, to Nov, 1997. The results of this study revealed abnormal... -
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- Clinical efficiency of the measurement of fetal nuchal translucency and Doppler examination of ductus venosus as a screening tool for chromosomal abnormalities
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Na SH, Koo BS
- KMID: 2273660
- Korean J Obstet Gynecol.
- 2009 Jan;52(1):61-67.
OBJECTIVE: To evaluate the efficiency of the measurement of fetal nuchal translucency (FNT) and ductus venosus Doppler examination (DV Doppler) as a screening tool for chromosomal abnormalities. METHODS: FNT measurement and... -
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- A Case of Acute Myelogenous Leukemia with a 47,XYY Karyotype
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Hwang HY, Kim MH, Kim YS, Eo WK, Jeong SH
- KMID: 2089633
- Korean J Clin Pathol.
- 2000 Aug;20(4):364-366.
A 61 year-old male patient admitted with the complaint of chest pain. During the evaluation, immature cells were found on the peripheral blood smear. Bone marrow aspiration and biopsy were... -
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- The Implementation of Pattern Classifier for Karyotype Classification
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Chang YH, Lee KS, Jun GR
- KMID: 2210124
- J Korean Soc Med Inform.
- 1997 Dec;3(2):207-214.
The human chromosome analysis is widely used to diagnose genetic disease and various congenital anomalies. Many researches on automated chromosome karyotype analysis has been carried out, some of which produced... -
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- A Case of 46 XX Male Syndrome
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Lee JM, Shim MS, Kim YU, Shin YG, Chung CH
- KMID: 2331166
- J Korean Soc Endocrinol.
- 2001 Feb;16(1):148-152.
The 46, XX male syndrome is rare disease that is characterized by a phenotypic male who has a 46, XX female karyotype. Since the first report by de la Chapelle... -
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- A Case of Mixed Gonadal Dysgenesis With 45X/46XY Karyotype and Patent Ductus Arteriosus
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Kim WJ, Kim YG, Joo CW
- KMID: 1914039
- Korean J Urol.
- 1994 Dec;35(12):1379-1383.
Mixed gonadal dysgenesis (MGD) with 45X/XY karyotype and patent ductus arteriosus (PDA) is a rare congenital abnormality. A thirty eight month-old male patient was admitted to our urology department for... -
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- Clinical disease characteristics according to karyotype in Turner syndrome
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Yeo CY, Kim CJ, Woo YJ, Lee DY, Kim MS, Kim EY, Kim JD
- KMID: 2281359
- Korean J Pediatr.
- 2010 Feb;53(2):158-162.
- doi: 10.3345/kjp.2010.53.2.158
PURPOSE: Turner syndrome (TS) is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the... -
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- Renal Problems in Early Adult Patients with Turner Syndrome
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Yu DU, Ku JK, Chung WY
- KMID: 2168417
- Child Kidney Dis.
- 2015 Oct;19(2):154-158.
- doi: 10.3339/chikd.2015.19.2.154
PURPOSE: This study aimed to evaluate the status of renal function and the presence of urinary abnormalities in early adult patients with Turner syndrome (TS). METHODS: Sixty-three girls with TS, who... -
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- Multicenter Trial of Aberrations of Chromosomes in Abortuses, Chorionic villi, Amniocytes, and Fetal Blood Cells
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Jun JK, Choe J, Choi YM, Hwang DY, Oh SK, Moon SY, Lee JY
- KMID: 2262039
- Korean J Obstet Gynecol.
- 2000 Jul;43(7):1200-1206.
OBJECTIVES: Chromosomal anomalies are common disease entity among genetic diseases. But there are scanty reports about the status of chromosomal abnormalities in Korean. In addition, the comprehensive multi-center study of... -
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- Incidence of Renal Anomalies According to the Karyotype in Children with Turner Syndrome
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Chung YH, Choi EK, Park YM, Park YH, Chung WY
- KMID: 1838793
- J Korean Soc Pediatr Endocrinol.
- 2005 Dec;10(2):176-180.
PURPOSE: The prevalence of renal anomalies in Turner syndrome (TS) has been reported varies from 33% to 60%. In order to clarify the true incidence of renal malformations in Korean... -
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- A Case of Delivery of Normal Term Baby after Treatment of Gonadoblastoma with Dysgerminoma and Choriocarcinoma in the Ovary in a Woman with 46XX Karyotype
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Lee YS, Cha DS, Park JS, Choi HI, Lee YJ, Yang SW, Jo MY, Han SW
- KMID: 1980072
- Korean J Gynecol Oncol Colposc.
- 2000 Sep;11(3):301-305.
A case of gonadoblastoma with dysgerminoma and choriocarcinoma in the right ovary of a 23-year-old woman is reported. A case of gonadoblastoma without a Y chromosome is very rare. She... -
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- Prognostic Significance of FLT3 Internal Tandem Duplication in Acute Myeloid Leukemia with Normal Karyotype
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Lee JY, Joo YD, Oh SH, Shin JH, Kim HR, Lee SM, Lee JN
- KMID: 2252151
- Korean J Hematol.
- 2009 Jun;44(2):74-81.
- doi: 10.5045/kjh.2009.44.2.74
BACKGROUND: Activating mutations of the fms-like tyrosine kinase 3 gene (FLT3) by internal tandem duplication (ITD) in the juxtamembrane region are found in 20~30% of the adults with acute myeloid... -
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