医学遗传学教学课件：Clinical Cytogenetics.pptVIP

spontaneous abortions 99% Karyotype : 45, X Fragile X Syndrome Fragile site Fragile X Fragile X Syndrome Fragile X syndrome Karyotype： 46, fra (X) Y Incidence： 1/4000 males 1/4000 - 8000 females Clinical Features Mental retardation（精神发育迟缓） Language handicap(语言障碍） Very active and restless(多动） Impaired concentration（凝视回避） Self-mutilation（自残） Specific feature（长脸、大下颌） Huge testis（大睾丸） Clinical Features young young old old Clinical Features Clinical Features Xq27.3 Etiology of Fragile X Syndrome FMR-1 Gene 17 Exons, 16 Introns, 38kb FMR-1(Fragile X mental retardation 1 )gene mutation is caused by an unusual expansion of a repeat of CGG (triplet repeat,三联子扩增). The repeat size will expand from generation to generation, So this mutation is also called instable mutation(动态突变）. Premutation and Full Mutation （前突变和全突变） Normal CGG 6-54 Premutation CGG 55-200 Full mutation CGG 200 “Grey zone” CGG 45-59 Outline The karyotypes in chromosomal disorders Etiology of trisomy syndrome： nondisjunction Balanced Translocation Carrier The Lyon hypothesis Nonrandom X inactivation Escape From Inactivation 期末答疑、考试时间安排 答疑时间：2014年4月9日(星期三)13:30-15:30 答疑地点：解剖楼234室 考试时间：2014年4月16日(星期三)13:30-15:30 * * 21q21q Translocation * * Prader-Willi/Angelman syndromes：is contiguous gene syndrome DiGeorge syndrome/ Velocardiofacial syndrome: is microdeletion Molecular and FISH studies have demonstrated that the location of centromeric and telomeric breakpoints cluster among different patients, suggesting the existence of deletion-probe sequences. The breakpoints localize to low-copy repeated sequences and that aberrant recombination between nearby copies of the repeats causes the deletions, which span several hundred to several thousand kb. This general mechanism has been implicated in several syndromes involving contiguous gene rearrangements. De