A Cytogenetic Study in Patients with Sex Chromosome Abnormalities |
Seo, Hyun Ji
(Department of Pediatrics, Kyungpook National University, College of Medicine)
Lee, Ji Hye (Department of Pediatrics, Kyungpook National University, College of Medicine) Lee, Heung Kyo (Department of Pediatrics, Kyungpook National University, College of Medicine) Jung, Seung Hee (Jung Pediatric Clinic) Lee, Kun Soo (Department of Pediatrics, Kyungpook National University, College of Medicine) |
1 | International System for Human Cytogenetic Nomenclature (1995) ISCN(1995). Mitelman F ed : Cytogenetics and Cell Genetics 1994 |
2 | Jacobs PA, Browne C, Gregson N, Joyce C, White H. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J Med Genet 1992;29:103-8 DOI PUBMED |
3 | Yang YH. Prenatal diagnosis of genetic disorders; present and future. A commemorative lecture of the 30th annual spring meeting of Korean Society of Medical Genetics; Seoul : The Korean Society of Medical Genetics 2005:5-25 |
4 | Robert LN, Roderick RM, Huntington FW. Thompson & Thompson genetics in medicine. 6th ed. Philadelphia : WB Saunders Co, 2002:157-80 |
5 | Hook ED, Hamerton JL. The frequency of chromosomal abnormalities detected in consecutive newborn studies- differences between studies results by sex and by severity of phenotypic involvement. In : Hook ED, Porter IH, eds. Population cytogenetics studies in humans. New York : Academic press Inc, 1977:63-79 |
6 | Jeong HK, Ahn EY, Rim SS, Kim EY, Kim KS, Kim YW et al. Assessment of chromosomal analyses of 1,180 cases suspected of chromosomal aberrations. J Korean Pediatr Soc 2002;45:311-9 |
7 | Oh SK, Choi J, Moon SY. Cytogenetic study on 100,000 cases. Abstracts of the 17th Annual Meeting of the Korean Society of Medical Genetics; Seoul : The Korean Society of Medical Genetics 1997:29 |
8 | Gravholt CH, Juul S, Naeraa RW, Hansen J. Prenatal and postnatal prevalence of Turner's syndrome : a registry study. BMJ 1996;312:16-21 DOI ScienceOn |
9 | Page DC. Y chromosome sequences in Turner's syndrome and risk of gonadoblastoma or virilisation. Lancet 1994;343: 240 |
10 | Hassold T, Hunt PA, Sherman S. Trisomy in humans : incidence, origin and etiology. Curr Opin Genet Dev 1993;3: 398-403 DOI ScienceOn |
11 | Lee KS editor. Assessment of chromosomal analysis-2001. Program and Abstract, the 52nd Annual Fall Meeting of the Korean Pediatric Society; Seoul : The Korean Pediatric Society, 2002:52 |
12 | Hong CY. Textbook of Pediatrics, 8th ed. Seoul : Daehan printing & publishing, 2004:141-80 |
13 | Park MJ, Lee JS, Kim KY, Kim DH. Clinical differences by karyotype in patients with Turner syndrome. J Korean Pediatr Soc 1995;38:143-50 |
14 | Choi WS, Kim KH, Paik YK. A cytogenetic study in patients referred for suspected chromosomal abnormalities. J Hanyang Med Coll 1984:565-97 |
15 | Hall JG, Gilchrist DM. Turner syndrome and its variants. Pediatr Clin North Am 1990;37:1421-40 DOI |
16 | Yaegashi N, Uehara S, Ogawa H, Hanew K, Igarashi A, Okamura K, et al. Association of intrauterine growth retardation with monosomy of the terminal segment of the short arm of the X chromosome in patients with Turner's syndrome. Gynecol Obstet Invest 2000;50:237-41 DOI ScienceOn |
17 | Robinson A, Lubs HA, Nielsen J, Sorensen K. Summary of clinical findings : profiles of children with 47,XXY, 47,XXX and 47,XYY karyotypes. Birth Defects Orig Artic Ser 1979; 15:261-6 |
18 | Lee YJ, Yang YH, Kim DH, Kim YM. A clinico-hormonal and cytogenetic studies in patients with gonadal dysgenesis. Korean J Fertil Steril 1983;10:25-37 |
19 | Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children : results from a 13-year incidence study in Arhus, Denmark. Hum Genet 1991;87:81-3 DOI PUBMED |
20 | Hamerton JL, Canning N, Ray M, Smith S. A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin Genet 1975;8:223-43 DOI ScienceOn |
21 | Ferguson-Smith MA. Sex chromatin, Klinfelter's syndrome and mental deficiency. In : Moore KL, ed. The Sex Chromatin. Philadelphia : WB Saunders, 1965:277-315 |
22 | Jang KC, Shin HJ, Kim DH. Clinical differences by karyotype in patients with Turner syndrome. J Korean Pediatr Endocrinol 2000;5:163-9 |
23 | Martin RH, Ko E, Rademaker A. Distribution of aneuploidy in human gametes : comparison between human sperm and oocytes. Am J Med Genet 1991;39:321-31 DOI ScienceOn |
24 | Patil SR, Lubs HA, Brown J, Cohen M, Gerald P, Hecht F, et al. Incidence of major chromosome abnormalities in children. Cytogenet Cell Genet 1977;18:3102-6 |
25 | Linden MG, Bender BG, Robinson A. Genetic counseling for sex chromosome abnormalities. Am J Med Genet 2002; 110:3-10 DOI ScienceOn |
26 | Kim SS, Jung SC, Kim HJ, Moon HR, Lee JS. Chromosome abnormalities in a referred population for suspected chromosomal aberrations : a report of 4117 cases. J Korean Med Sci 1999;14:373-6 DOI |
27 | Caspersson T, Zech L, Johansson C, Modest EJ. Identification of human chromosomes by DNA-binding fluorescent agents. Chromosoma 1970;30:215-27 |
28 | Sarkar R, Marimuthu KM. Association between the degree of mosaicism and the severity of syndrome in Turner mosaics and Klinefelter mosaics. Clin Genet 1983;24:420-8 DOI |
29 | Melvin MG, Ieuan AH, Felix AC. Disorders of sex differentiation. In : Larsen PR, Kronenberg HM, Melmed S, Polonsky KS, eds. Williams textbook of endocrinology, 10th ed. Philadelphia : WB Sounders Co, 2003:842-1002 |
30 | Telvi L, Lebbar A, Del Pino O, Barbet JP, Chaussain JL. 45,X/46,XY mosaicism : report of 27 cases. Pediatrics 1999; 104:304-8 |