第五章染色体病.ppt

Cat’s cry syndrome 1963年，Lejeune首次报导。 哭声如猫叫，智力落后，生长阻滞，小头，满月脸，斜视，心脏畸形。 Cat’s cry, Microcephaly, Moon like face, Mental retardation severe 核型：46,XY,5p- 46,XY,del(5)(p15) 46,XY,del(5)(:5p15→ qter) Gonosome disorders Sex chromatin(性染色质) Klinefelter syndrome (先天性睾丸发育不全综合征) Turner syndrome (先天性卵巢发育不全综合征) Martin-Bell syndrome (脆性X染色体智力障碍综合征) Sex chromatin X chromatin（X body，Barr body） Y chromatin Lyon hypothesis Lyon hypothesis (Lyonization,1961) 在哺乳动物（包括人类）的正常雌性间期细胞，两条X染色体中的一条是遗传上失活的，形成X性染色质。 最初的失活发生在胚胎发育的早期。 最初的失活是随机的，不同的细胞中，其失活的染色体可能源自父方或母方，但一旦发生，就在其子细胞中保持恒定。 In the somatic cells of female mammals, all but one of the X chromosomes are inactivated and condensed and appear in interphase cells as the sex chromatin (Barr body). The inactivation occurs early in embryonic life. The inactive X chromosome can be either paternal or maternal X in different cells of the same individual; but after the “decision” has been made in a particular cell, all the clonal descendants of that cell will “ abide by the decision”; i.e., they will have the same inactive X. In other words, inactivation is RANDOM but FIXED. X-chromatin = X chromosome -1 Y-chromatin = Y chromosome The Y chromosome in sex determination and in disorders of sexual differentiation. Individual genes and regions implicated in sex determination, sex reversal, and defects of spermatogenesis are indicated. Klinefelter syndrome Major clinical features： 外表男性，睾丸小，不育，男性乳房发育(gynecomastia)。其性情体态女性化。 身材瘦长，体力较弱。 Major clinical features： Male appearance， Gynecomastia, Testicular atrophy, Sterility。 Klinefelter syndrome Karyotype： 47, XXY 48, XXXY 49, XXXXY 46, XY/47, XXY Turner syndrome (先天性卵巢发育不全综合征) 外表女性，原发闭经，卵巢萎缩，外生殖器发育不良，身材矮小（身高一般不超过1.50M）肘外翻，盾状胸，乳房不发育， 色素痣，一般不育。 Female appearance Short stature Lack of pubertal development Ovarian dysgenesis Characteristic somatic malformation Neck web(蹼颈) Hairline very low(低发际) Turner syndrome (先天性卵巢发育不全综合征) 核型： 45, X0 45, X0/46, XX 46, X, i(Xq) 46, X, r(X) 46, X, del(X) Turner