- 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 study on chromosome mosaicism and pseudomosaicism in 4,376 amniocenteses
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Oh BH
- KMID: 1696720
- Korean J Obstet Gynecol.
- 1991 Sep;34(9):1201-1208.
No abstract available. -
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- A Case of 18-Trisomy Mosaicism with Parental Mosaicism
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Cho SB, Park PR, Lee MN, Yoon DJ
- KMID: 2208674
- J Korean Pediatr Soc.
- 1981 Aug;24(8):791-796.
A case of 18-Trisomy mosaicism in a male newborn infant who was born to a mother of 27 years old at Cheil Hospital was presented. This baby had grossly multiple... -
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- A case of 46,XX/46,XX, del(3)(q21) mosaicism in amniocentesis: diagnostic problems and clinical significance
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Oh BH
- KMID: 1696802
- Korean J Obstet Gynecol.
- 1991 Nov;34(11):1619-1624.
No abstract available. -
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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 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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- A Case of 45, XO/46, XY Mosaicism With Left Inguinal Herniation of The Ovary
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Song YH, Lee HB, Park CM, Baik YG, Jung PM
- KMID: 1699159
- J Korean Pediatr Soc.
- 1983 Jun;26(6):606-610.
No abstract available. -
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- A Case of Report of Slipped Capital Femoral Epiphysis Associated with Hypogonadism with Turner Mosaicism (XX/XO) and diabetes Inspidus
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Jeon YB, Seo KY
- KMID: 2446372
- J Korean Orthop Assoc.
- 1983 Oct;18(5):1013-1018.
- doi: 10.4055/jkoa.1983.18.5.1013
No abstract available in English. -
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- A case of hypomelanosis of Ito accompanying Turner syndrome
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No KU, Kim DW, Shin DJ, Moon HR
- KMID: 1691049
- J Korean Pediatr Soc.
- 1992 Aug;35(8):1157-1163.
No abstract available. -
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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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- A case of turner mosaicism with virilization
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Im ES, Choo CW, Kim SW, Sung JY, Park JW, Kim HR, Jee BC
- KMID: 1474973
- Korean J Obstet Gynecol.
- 2009 Jun;52(6):671-675.
A 17-year-old girl presented with primary amenorrhea, short stature, and clitomegaly. Her karyotype showed Turner mosaicism of 45,X/46,XY,idic(Y)(q11.23)del(Y)(q11.23). Laparoscopic bilateral gonadectomy was performed and there was testicular tissue in left... -
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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 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 8 Mosaicism in a Patient with Secondary Amnorreha without Abnormal Phenotype
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Kang HS, Son YS, Kim SY, Park CM, Shim SS
- KMID: 1851094
- J Genet Med.
- 2011 Jun;8(1):67-70.
- doi: 10.5734/JGM.2011.8.1.67
Constitutional trisomy 8 mosaicism (CT8M) is a relatively rare aneuploidy in humans with characteristic phenotypes including typical craniofacial feature (such as deformed skull, prominent forehead, low-set and/or dysplastic ears), skeletal... -
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- A Case of Hypomelanosis of Ito with Diploid/triploid Mosaicism
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Jang YH, Kim HJ, Na GY, Lee WJ, Kim DW, Jun JB
- KMID: 2302504
- Korean J Dermatol.
- 2005 Aug;43(8):1085-1088.
Hypomelanosis of Ito was first described by Ito in 1952 as incontinentia pigmenti achromians. The consistent feature of the disease is a characteristic cutaneous hypopigmentation following the lines of Blaschko,... -
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- Monosomy 22 Mosaicism Associated Thrombocytopenia Presenting as Behcet's Disease
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Kim JY, Lee KH, Lee SC, Lee JY
- KMID: 1441721
- Clin Pediatr Hematol Oncol.
- 2012 Apr;19(1):40-43.
We describe an 18 year old female with monosomy 22 mosaicism and thrombocytopenia. She had some unique facial appearance such as small eyes and thin lip, similar to those with... -
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- Discrepancy in cytogenetic results between amniotic fluid cells and other fetal tissues: A case report
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Park JW, Kang HS, Oh KJ, Park CW, Ahn HS, Park JS, Jun JK, Oh SK, Choi YM, Moon SY, Syn HC
- KMID: 2273823
- Korean J Obstet Gynecol.
- 2009 Dec;52(12):1319-1321.
We present two fetuses who were prenatally diagnosed by amniocentesis as having chromosomal mosaicism but who had a normal karyotype in the fetal blood by cordocentesis. One of the both... -
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- Hypothesis: Somatic Mosaicism and Parkinson Disease
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Kim HJ, Jeon BS
- KMID: 2165533
- Exp Neurobiol.
- 2014 Dec;23(4):271-276.
- doi: 10.5607/en.2014.23.4.271
Mutations causing genetic disorders can occur during mitotic cell division after fertilization, which is called somatic mutations. This leads to somatic mosaicism, where two or more genetically distinct cells are... -
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- Concurrence of Circumscribed Morphea and Segmental Vitiligo: A Case Report
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Lee JS, Park HS, Cho S, Yoon HS
- KMID: 2428928
- Ann Dermatol.
- 2018 Dec;30(6):708-711.
- doi: 10.5021/ad.2018.30.6.708
Although a few reports have noted the concurrent presentation of morphea and vitiligo at distinctly separate sites in the same patient, it is extremely rare that these two conditions occur... -
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- A Case of Trisomy 9 Mosaicism Mimicking Smith-Lemli-Opitz Syndrome
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Kim SJ, Jeong JH, Cho SM
- KMID: 1606471
- J Korean Pediatr Soc.
- 2001 Sep;44(9):1047-1051.
Trisomy 9 mosaicism is a disease characterized not only by intrauterine growth retardation and mental retardation but also congenital heart defects, musculoskeletal, genitourinary and CNS anomalies, as well as craniofacial... -
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