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 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*
3.Down Syndrome.
Journal of the Korean Pediatric Society 2003;46(7):623-626
No abstract available.
Down Syndrome*
4.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*
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.
Ji Hye KANG ; Young Mi HONG ; Kyung Hee KIM ; Seung Joo LEE ; Ki Sook HONG ; Ok Kyung KIM ; Je Geun CHI
Journal of the Korean Pediatric Society 1990;33(2):252-258
No abstract available.
Down Syndrome*
;
Myeloproliferative Disorders*
8.A Case of (21q 21q) Translocation Down Syndrome Inherited from a t(21q 21q) Balanced Carrier Mother.
Byeong Gie YEO ; Chong Woo BAE ; Yong Mook CHOI ; Chang Il AHN ; Bo Hoon OH
Journal of the Korean Pediatric Society 1990;33(7):1004-1008
No abstract available.
Down Syndrome*
;
Humans
;
Mothers*
9.Some remarks of age and karyotypes of parents. WHO have had children with down’s syndrome
Journal of Medical Research 1998;7(3):21-24
The total 76 children from one month of age to fourteen years of age have been determined as phenotypic features and karyotypes of Down's syndrome. The distribution is as follow: typical trisomy is 69 cases (90%), translocation is 4 cases (5.26%), mosaism is 3 cases (3.95%). The mean maternal age at the birth of Down's patients was 30.8±2.2. The mean paternal age at the birth of Down's patients was 33.9±1.7. Maternal age distribution at the birth of Down's patients: The frequency was lowest in the mothers under 20 years old. It increases at age 25-29, then it decreased and increased again after the age 35-39. Chromosome studies have been made also on the patients, whose karyotypes are all normal (46,XX or 46,XY). The pedigrees of all patients were made. It has no one who has two patients in the same family
Down Syndrome
;
diagnosis
10.Analysis of genetic characteristics of two families having two children with Down's syndrome
Journal of Medical Research 2005;34(2):5-11
. Genetic characteristics of two families having two children with Down's syndrome were analysed in the Department of Medical Biology and Genetics - Hanoi Medical University. Results: Family 1: Couple have two sons with Down's syndrome trisomy 21. Karyotype of the father 46,XY. Karyotype of the mother 46,XY Two sons (5 years and 3 years of old) have karyotype 47,XY,+21. Two sons have single horizontal fold on both hands. Family 2: Couple have a girl and a son with Down's syndrome translocated chromosome t (13;21). Karyotype of the father: 46,XY and of the mother 45,XX,-13,+t(13;21). Karyotype of the girl (12 years): 46,XX, 13,+t(13;21). Karyotype of the son (7 years) have: 46,XY,-13, +t(13;21). Two children have not any single fold on the hands.
Down Syndrome, Child, Genes