复旦大学：《儿科学》课程教学资源（PPT课件讲稿，双语版）21 trisomy Also named Down 's Syndrome

(21 trisomy) Also named Down's Syndrome

Also named Down’s Syndrome （21 trisomy）

, fm i One pairofchromosome 21 was seen in peripheral lymphocytes of normal person EC鼹蒲鼹 8 46 15 18

One pair of chromosome 21 was seen in peripheral lymphocytes of normal person

染色体组型分析图 被检者名致仁逆年龄m门诊号2B 日期2搞号的+顺号92491。核型分析42)∠ trisomy of chromosome 21 was seen in the peripheral lymphocytes of patient with 21-trisomy 1 唇32中当

trisomy of chromosome 21 was seen in the peripheral lymphocytes of patient with 21-trisomy

只需Q221三体即可导致21三体综合征表型 0221 trisomy will cause the phenotype of 21-trisomy Schematic digram of chromosome 21

Q221 trisomy will cause the phenotype of 21-trisomy Schematic digram of chromosome 21 只需 Q221 三体即可导致 21 三体综合征表型

thogenesis of various type of 2l trisomy

Pathogenesis of various type of 21 trisomy

Karyotype of various type of 21-trisomy Standard type(47,XY/XX, +21) mosaicism(46/47+21) Translocation (eg: 46, -13, +t(13q: 21q)

• Standard type (47,XY/XX,+21) • masaicism（46 / 47 + 21） • Translocation（eg：46, -13,+t(13q;21q） Karyotype of various type of 21-trisomy

2121 2121 八 Disjunction of chromosome 21 IOSIS 2121 gamete 21 21 21 212121 21 212121 oosperm 21 monosomy 21-trisomy Pathogenesis of standard type 2/-tr chromosome 2/ duri

21 21 21monosomy 21-trisomy Pathogenesis of standard type 21-trisomy:disjunction of chromosome 21 during miosis Disjunction of chromosome 21 21 21 21 21 21 Germ cells 21 21 21 21 0 21 21 gamete 21 21 21 oosperm miosis

Karyotype of mosaicism/ k8xx著A》八x一汽一 X一一 21-trisomy cell series 3条21号染色体 【 d 、y Normal cell 2 series 2条21号染色体

21-trisomy cell series Normal cell series 3条21 号染色体 2条21 号染色体 Karyotype of mosaicism 21-trisomy

Pat of mosaicism 21-trisomy 2121 Oosperm mitosis 2121 12 八 C First generation Disjunction of chromosome 21 during mitosis 2121 2121 212121 21 A八八 seocnd generation Nondisjunction in early cell division of a normal zygote

mitosis 21 21 Oosperm 21 21 21 21 First generation 21 21 21 21 21 21 21 21 seocnd generation Disjunction of chromosome 21 during mitosis Pathogenesis of mosaicism 21-trisomy Nondisjunction in early cell division of a normal zygote

Translocation flon armof chromosome r I i 21 to chromosome 14 。“点 溪24 7 8 K Example of translocation of 21-trisomy

Translocation of long arm of chromosome 21 to chromoxome 14 Example of translocation of 21-trisomy