Nội dung được dịch bởi AI, chỉ mang tính chất tham khảo
Một kiểu gen 45,X/46,X,4(?) dạng môsaic được nghiên cứu bằng cách sử dụng các đầu dò cụ thể cho tâm động của nhiễm sắc thể X và Y thông qua kỹ thuật hybrid hóa tại chỗ không tự phóng xạ
Tóm tắt
Nguồn gốc nhiễm sắc thể giới tính của nhiễm sắc thể vòng trong một bệnh nhân nữ chưa dậy thì không có triệu chứng nam tính với kiểu gen 45,X/46,X,r(?) không thể được làm sáng tỏ bằng các phương pháp sinh học tế bào thông thường (bao gồm cả G11). Các đầu dò chuỗi lặp lại alphoid cụ thể cho tâm động X và Y đã được biotin hóa và không sử dụng tự phóng xạ để nhanh chóng và rõ ràng xác định rằng nhiễm sắc thể vòng này có nguồn gốc từ nhiễm sắc thể X.
Từ khóa
#nhiễm sắc thể vòng #kiểu gen môsaic #hybrid hóa tại chỗ #đầu dò tâm động cụ thể #nữ không dậy thìTài liệu tham khảo
Almeida JCC, Llerena JC Jr, Molina Gomes D, Rita Martins R, Jung M, Reis DF, Cunha AG (1985) G-11 staining in Turner's syndrome with mos 45,X/46,X,r(?). Ann Génét (Paris) 28:37–41
Almeida JCC, Llerena JC Jr, Jung M, Martins RR, Gomes DM, Reis DF, Cunha AG (1986) Combined cytogenetic techniques and non-fluorescent Y. Cytologic evidences of dic(Yp)(q11) in a previously interpreted 46,X,Yq-. Ann Génét (Paris) 29:114–118
Bobrow M, Madan K, Pearson PL (1972) Staining of some specific regions of human chromosomes, particularly the secondary constriction of number 9. Nature New Biol 238:122–124
Coco R, Bergada C (1977) Cytogenetic findings in 125 patients with Turner's syndrome and abnormal karyotypes. J Genet Hum 25: 95–107
Crolla JA, Gilgenkrantz S, Grouchy J de, Kajii T, Bobrow M (1989) Incontinentia pigmenti and X-autosome translocations: non-isotopic in situ hybridization with an X-centromeric breakpoint in one of five published cases. Hum Genet 81 (in press)
Davis RM (1981) Localization of male determining factors in man: a thorough review of structural anomalies of the Y chromosome. J Med Genet 18:161–195
Durnam DM, Gelinas RE, Myerson D (1985) Detection of species specific chromosomes in somatic cell hybrids. Somatic Cell Mol Genet 11:571–577
Garson JA, Berghe JA van den, Kemshead JT (1987) Novel non-isotopic in situ hybridization technique detects small (1 Kb) unique sequences in routinely G-banded human chromosomes: fine mapping of N-myc and β-NGF genes. Nucleic Acids Res 15:4761–4770
Jabs EW, Persico MG (1987) Characterisation of human centromeric regions of specific chromosomes by means of alphoid DNA sequences. Am J Hum Genet 41:374–390
Khudr G, Benirschke K (1973) Y ring chromosome associated with gonadoblastoma in situ. Obstet Gynecol 41:897–901
Lin CC, Alitalo K, Schwab M, George D, Varmus HE, Bishop JM (1985) Evolution of karyotypic abnormalities and C-myc oncogene amplification in human colonic carcinoma cell lines. Chromosoma 92:11–15
Madan K, Gooren L, Schoemaker J (1979). Three cases of sex chromosome mosaicism with a nonfluorescent Y. Hum Genet 46:295–304
Magenis RE, Donlon T (1982) Nonfluorescent Y chromosomes. Cytologic evidence of origin. Hum Genet 60:133–138
Magenis RE, Brown MG, Donlon T, Olson SB, Sheehy R, Tomar D (1985) Structural aberrations of the Y chromosome, including the nonfluorescent Y: cytologic origin and consequences. In: Sandberg AA (ed) The Y chromosome, part A: Basic characteristics of the Y chromosome. Liss, New York, pp 537–574
Magenis RE, Casanova M, Fellous M, Olson S, Sheehy R (1987) Further cytologic evidence of Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe. Hum Genet 75:228–233
Manuel M, Katayama KP, Jones HW (1979) The age of occurrence of gonadal tumors in intersex patients with a Y chromosome. Am J Obstet Gynecol 124:293–300
Palmer CG, Reichmann A (1976) Chromosomal and clinical findings in 110 females with Turner's syndrome. Hum Genet 35:35–49
Polani PE (1979) Role of sex chromosomes in the determination and differentiation of sex in mammals. Dev Med Child Neurol 21: 249–263
Schmid W, Naef E, Mürset G, Prader A (1974) Cytogenetic findings in 89 cases of Turner's syndrome with abnormal karyotypes. Hum Genet 24:93–104
Siebers JW, Vogel W, Hepp H, Bolze H, Dittrich A (1973) Structural aberrations of the Y chromosome and the corresponding phenotype. Report of a case with the karyotype 45,X/46,X,i(Yp). Hum Genet 19:57–66
Simpson JL (1976) Gonadal dysgenesis. In: Simpson JL (ed) Disorders of sexual differentiation: etiology and clinical delineation. Academic Press, New York London, pp 259–302
Waye JS, Creeper LA, Willard HF (1987) Organization and evolution of alpha satellite DNA from human chromosome 11. Chromosoma 95:182–188
Willard HF, Smith KD, Sutherland J (1983) Isolation and characterization of a major tandem repeat family from the human X chromosome. Nucleic Acids Res 11:2017–2033
Wolfe J, Darling SM, Erickson RP, Craig IW, Buckle VJ, Rigby PWJ, Willard HF, Goodfellow PN (1985) Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome. J Mol Biol 182:477–485
Wolman SR, David R, Koo G (1985) The “Y” chromosome in the female phenotype. In: Sandberg AA (ed) The Y chromosome, part A: Basic characteristics of the Y chromosome. Liss, New York, pp 477–505
Wyandt HE, Wysham DG, Minden SK, Anderson SR, Hecht F (1976) Mechanisms of Giemsa banding of chromosomes. I. Giemsa-11 banding with azure and eosin. Exp Cell Res 102:85–94
