- A case of de Novo trisomy 12p syndrome
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Lee YH, Kim KY
- KMID: 1691606
- J Korean Pediatr Soc.
- 1991 Nov;34(11):1581-1586.
No abstract available. -
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- A case of Mosaic trisomy 8
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Nam HK, Lee DA, Lee DH, Lee SJ
- KMID: 1691835
- J Korean Pediatr Soc.
- 1991 Apr;34(4):553-557.
No abstract available. -
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- A case of Sq2 trisomy
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Song KI, Kim HJ, Hwang JB, Han CH, Chung HL, Kwon YD
- KMID: 1691300
- J Korean Pediatr Soc.
- 1992 May;35(5):718-722.
No abstract available. -
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- A Case of Trisomy 18 diagnosed with Prenatal Ultrasonography
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Kim YC, Hwang MS
- KMID: 2026760
- Korean J Obstet Gynecol.
- 1998 Nov;41(11):2898-2901.
The sonographic findings of Trisomy 18 are varied. Sonographic findings including choroid plexus cyst, hydramnios, enlarged cisterna magna, shortening of femur, micrognathia and clenched hands are observed in our case... -
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- A Case of Trisomy 9 Syndrome
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Jeon YS, Kim HT, Jeong SH, Choeh K
- KMID: 2335327
- J Korean Pediatr Soc.
- 1998 Feb;41(2):255-258.
Since Feingold and his collegues first described the trisomy 9 syndrome in 1973, approximately 30 patients with trisomy of the chromsome 9 have been described. Trisomy 9 has been reported... -
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- A case of trisomy 8 mosaicism
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Lee HR, Lee BG, Cho SC, Lee DY, Kim JS, Jin SJ
- KMID: 1691157
- J Korean Pediatr Soc.
- 1992 Jun;35(6):845-850.
No abstract available. -
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- A Case of Prenatally Detected Trisomy 9 Associated with Dandy Walker Syndrome
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Song JH, Kim SH, Shin JW, Moon JJ, Park SJ, Kang KH, Hong HS
- KMID: 2075283
- Korean J Obstet Gynecol.
- 1997 Aug;40(8):1715-1721.
Complete trisomy 9 is a rare chromosomal aneuploidy in live born infants. The majority of cases of trisomy 9 end in spontaneous abortion in the first trimester. Clinical finding of... -
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- Trisomy 12p Syndrome Secondary to a Balanced Maternal Translocation [46,XX, t(12;22)(p11.2;p13)]
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Gang MH, Lee YW, Lim HH, Chang MY
- KMID: 2468549
- Perinatology.
- 2019 Dec;30(4):254-259.
- doi: 10.14734/PN.2019.30.4.254
Trisomy 12p is a rare chromosomal anomaly. It causes dysmorphic features, multiple congenital anomalies, neonatal complications, and mental retardation. We present a case of complete and pure trisomy 12p syndrome... -
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- Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism
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Choi JH, Choi YJ, Kim SY
- KMID: 1387403
- Korean J Ophthalmol.
- 2012 Aug;26(4):316-318.
- doi: 10.3341/kjo.2012.26.4.316
Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We report a patient with presumed retinal dystrophy having diffuse retinal pigment epithelial abnormalities, which has... -
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- Prenatal Ultrasonography of Trisomy 18 with Radial Aplasia: A Case Report
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Lee JY, Lee YH
- KMID: 2099488
- J Korean Soc Med Ultrasound.
- 2002 Jun;21(2):141-144.
Trisomy 18 (Edward syndrome) is the second most common chromosomal anomaly of the autosomal trisomy. Prenatal diagnosis of trisomy 18 is extremely important because of the complex malformations and lethal... -
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- A Cse of Partial Trisomy 10q Syndrome
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Park YC, Choi AH, Han JY
- KMID: 2071976
- Korean J Perinatol.
- 1998 Dec;9(4):421-424.
Partial trisomy 10q syndrome is a rare chromosome anomaly characterized by severe mental and growth retardation, craniofacial dysmorphia with prominent forehead, fine arched eyebrows, deep set small eyes and micrognathia,... -
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- A Rare Case of Double Trisomy Mosaicism: 47,XXX/47,XX,+8
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Lee JH, Kim HS, Ha JS
- KMID: 1811008
- J Genet Med.
- 2013 Dec;10(2):117-119.
- doi: 10.5734/JGM.2013.10.2.117
Double trisomy mosaicism of two different cell lines is extremely rare, particularly those that involve constitutional trisomy 8. We report a case of 47,XXX/47,XX,+8 in a 12-year-old female presenting with... -
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- A Case of Trisomy 9 Mosaicism Syndrome
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Na YJ, Lee JH, Park MS
- KMID: 2355576
- Perinatology.
- 2016 Sep;27(3):174-177.
- doi: 10.14734/PN.2016.27.3.174
Trisomy 9 mosaicism syndrome was first reported by Haslam in 1973 and has been rarely reported. The severity of malformations depends on the percentage of trisomic cells. This syndrome can... -
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- A Case of Distal 10q Partial Trisomy Syndrome
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Youn S, Hong JH, Lee HY, Kim JS, Cha BH
- KMID: 2007413
- J Korean Child Neurol Soc.
- 2003 Nov;11(2):391-395.
Since Yunis and Sanchez described in 1974, distal 10q partial trisomy has been recognised as a chromosomal anomaly, which has typical features, psychomotor delays, distinctive dysmorphic appearance and growth retardation.... -
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- A Case of Partial Trisomy 9 due to Maternal Balanced Translocation t(9;21)(q21.2;q11.2)
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Shin IS, Jung WJ, Jin JY, Lee WR
- KMID: 1845273
- Korean J Perinatol.
- 2010 Sep;21(3):302-305.
Trisomy 9 syndrome was first reported by Retheore in 1970 and has been rarely reported. This syndrome consists of partial and complete trisomy 9. It is characterized by growth and... -
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- Complete trisomy 14 mosaicism: first live-born case in Korea
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Hur YJ, Hwang T
- KMID: 2140716
- Korean J Pediatr.
- 2012 Oct;55(10):393-396.
- doi: 10.3345/kjp.2012.55.10.393
Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the... -
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- A Case of Pediatric Acute Lymphoblastic Leukemia with Trisomy 5 as a Sole Chromosomal Anomaly: A Prognostic Significance
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Cho YH, Jeon IS
- KMID: 2464256
- Clin Pediatr Hematol Oncol.
- 2019 Oct;26(2):91-94.
- doi: 10.15264/cpho.2019.26.2.91
We present a case of Korean pediatric patient with pre-B cell type acute lymphoblastic leukemia (ALL) with trisomy 5 as a sole cytogenetic anomaly. Here, we compare and describe the... -
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- Abnormal Development and Apoptosis Observed in Brains of the Trisomy 16 Mouse
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Cho EY, Suh YL, Chi JG
- KMID: 2073688
- Korean J Pathol.
- 1999 Aug;33(8):570-580.
We have studied morphologic characteristics and apoptosis on the fetal brain of the trisomy 16 mouse, a model for human trisomy 21 syndrome. This study was based on serial sections... -
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- A Case of Constitutional Trisomy 8 Mosaicism
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Cho HS, Lee CH, Kim KD, Lee ES
- KMID: 2320188
- Yeungnam Univ J Med.
- 2005 Dec;22(2):241-246.
Constitutional trisomy 8 is a relatively rare aneuploidy; most identified cases are mosaic with a normal cell line. The phenotype is highly variable from apparently normal to severe disability. The... -
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- An unusual combination of trisomy 21 and partial trisomy 5q
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Kim CJ, Chi JG, Lee KH, Lee CK, Yoo MS, Paik YK
- KMID: 1421942
- J Korean Med Sci.
- 1992 Dec;7(4):373-376.
- doi: 10.3346/jkms.1992.7.4.373
The authors describe a male newborn with multiple congenital anomalies; craniofacial dysmorphism, bilateral cleft palate and lip, ambiguous external genitalia with absence of phallus, ventricular septal defect, agenesis of... -
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