1.Papular Elastorrhexis in Down's Syndrome.
Hyun Chul SHIM ; Young In JEONG ; Geon KIM ; Kye Yong SONG ; Jong Eun LEE ; Minh Sook JUE ; Eun Jung KIM ; Hyang Joon PARK ; Ok Ja JOH
Korean Journal of Dermatology 2013;51(9):750-752
No abstract available.
Down Syndrome
2.A Study about the Defectiveness of Maternal Serum Triple Marker Test for Down Syndrome.
Seung Ug IM ; Ji Sung LEE ; Gwang Jun KIM ; Gi Nam EOM ; Kyung Chul SONG ; Cheol Gyu KANG
Korean Journal of Perinatology 2001;12(3):309-314
No abstract available.
Down Syndrome*
3.A comparative study of the cranicial complex in korean with Down's syndrome.
Young Chul JANG ; Won Yong YANG ; Doo Hyung LEE
Journal of the Korean Society of Plastic and Reconstructive Surgeons 1993;20(2):272-293
No abstract available.
Down Syndrome*
4.Down Syndrome.
Journal of the Korean Pediatric Society 2003;46(7):623-626
No abstract available.
Down Syndrome*
5.The risk of Down reproduction in couples with translocation chromosome t(Dq; 21q) or t(21q; Gq)
Journal of Medical Research 2008;54(2):6-10
Background: Down\u2019s syndrome is the most frequent chromosome aberration syndrome in newborns another well-known cause was related to the age of the mother. However, children with translocation Down\u2019s syndrome can be the offspring\u2019s of parents who carry balanced translocation chromosome. Objectives: (1) Study on the chromosomal abnormalities in Down\u2019s syndrome; and (2) analyse the risk of Down reproduction in couples who has a translocation chromosome t(Dq; 21q) or t(21q; Gq). Subjects and methods: The study was carried out on 157 Down\u2019s children who were between 1 day and 7 years of age, and 157 couples who were their parents from the National Institute of Pediatrics, pediatric departments of Bach Mai Hospital, Saint Paul Hospital and National Hospital of Obstetric and Gynecology. All participants were examined for the chromosome by culturing lymphocytes from peripheral blood. Results and conclusions: The rate of simple trisomy 21 was 92.4%; translocation type: 5.7%, and mosaic type: 1.9%. 154 couples (98.1%) have normal karyotype and 3 couples (1.9%) carry balanced translocation chromosome. 1 couple carried t(14q; 21q) and can have a Down offspring. 2 couples with t(21q; 21q) had 100% risk of having Down children. These 3 couples should have genetic counseling about Down syndrome.
Down\u2019s syndrome
;
translocation Down\u2019s syndrome
6.Using the Fluorescence in Situ Hybridization technique for prenatal diagnosis of Down’s syndrome
Journal of Practical Medicine 2005;530(11):9-11
Fluorescence in Situ Hybridization (FISH) is cytogenetics - molecular technique. FISH is the rapid detection technique of chromosomal aberration by chromosome specific probes applied to interphase cells. In this study, the authors used Kit duple DNA probe for chromosome 13, 21, X, Y to prenatal diagnosis of Down’s syndrome. With 6 amniotic fluid samples, the authors obtained the results as follows: 2 samples were Down’s syndrome trisomy; 1 sample was Patau syndrome trisomy; 3 samples were normal; 1 sample male foetus died without clear causes. Cytogenetic result: 46, XX but FISH result: 46, XY; PCR (Polymerase Chain Reaction) result: TDF (Testis Determining Factor): (+). These results were confirmed by chrosome analysis.
Down Syndrome
;
Prenatal Diagnosis
7.A case of transient myeloproliferative disorder in Down's syndrome.
Dong Uk KIM ; Woo Ki LEE ; Eung Won PARK ; Kwang Woo KIM
Journal of the Korean Pediatric Society 1991;34(12):1740-1744
No abstract available.
Down Syndrome*
;
Myeloproliferative Disorders*
8.Clinical considerations of acute leukemia or transient myeloprolifo- rative disorder in Down syndrome.
Eun Sil DONG ; Sung Hee JANG ; Hong Hoe KOO ; Hye Lim JUNG ; Hee Young SHIN ; Hyo Seop AHN
Journal of the Korean Pediatric Society 1991;34(1):74-82
No abstract available.
Down Syndrome*
;
Leukemia*
9.Cytogenetic study on 37 patients with Down syndrome.
Hye Young KIM ; Sung Woon CHANG ; Kwang Hee PARK ; Bo Hoon OH
Korean Journal of Obstetrics and Gynecology 1993;36(7):1084-1089
No abstract available.
Cytogenetics*
;
Down Syndrome*
;
Humans
10.A Case of Trensient Myeloproliferative Disorder with Down Syndrome.
Dong Gyoon KIM ; Jae Ho LEE ; Jung Il NOH ; Hyo Seop AHN ; Chang Yee HONG
Journal of the Korean Pediatric Society 1983;26(10):1024-1028
No abstract available.
Down Syndrome*
;
Myeloproliferative Disorders*
Result Analysis
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