医学遗传学14章总结(英文班).docVIP

Chapter 14 chromosomal diseases 1 . Chromosome disease： Any syndrome characterized by malformations or malfunctions in any of the bodys systems, and caused by abnormal chromosome number or constitution. 2、Clasification： Autosomal disease常染色体病：Several serious human disorders are due to alterations of autosome number and structure. Sex chromosomal disease性染色体病：Some disorders are caused by abnormal sex chromosome number and structure. Autosomal disease常染色体病 Down’s syndrome ，Trisomy 21 syndrome 21三体综合征/先天愚型 【1】Incidence发生率 Incidence：1/1000～2/1000 The probability increases with maternal age 随母亲生育年龄增高而增高 【2】clinical characteristics Special facial appearance a broad head and a very round face. an upward slant to the eyes, widely-spaced eyes a flat nasal bridge 鼻梁扁平 a protruding tongue 舌外伸 Ears: The ears are small with an overfolded helix. Developmental delays 发育迟缓 Short stature and obesity 矮胖 Poor muscle tone 肌张力弱 sitting up, crawling, and walking — later than other kids Toddlers初学走路的孩子 and older kids may have delays in speech and self-care skills like feeding, dressing Mental retardation 智力缺陷 in the mild (IQ 50–70) to moderate (IQ 35–50) range Shorter and bounty hands 短而宽的手 Dermatology皮肤病 :Simian crease A single transverse palmar crease. 断掌 Normal 2% Abnormal 50% Atd angle58° normal41° Straw sandal foot: excessive space between large toe and second toe 1、2脚趾间隙增大 Congenital defects ：先天性缺陷 Congenital heart defects, intestinal abnormalities, respiratory problems,, an increased susceptibility to infection, and a higher risk of childhood leukemia. 【3】genetical types遗传分型 Standard Trisomy 21 游离型（标准型） With 92.5% 47,XX(XY),+21 Cause:a meiotic nondisjunction减数分裂时不分离 Translocation 易位型 With 2.5~5% Common karyotypes： 46，XX(XY), -14,+t (14q21q) 46，XX(XY), -21,+t (21q21q) Balanced translocation carrier双亲之一是表型正常的染色体平衡易位携带者 Karyotype： 45，XX(XY),-14,-21,+t(14;21)(p11;q11) 45,XX(XY),der (14;21)(p11;q11) Mosaicism 嵌合型 Mosaicism is when a person has a mix of cells,