Ideogram of Human Male g-banded metaphase chromosomes (400 bands per haploid karyotype) 26 22 8 2 日 213 22 31 13 13 23
Ideogram of Human Male G-banded Metaphase Chromosomes (400 bands per haploid karyotype)
Types of Chromosomal Anomalies 1. Trisomy 2. Monosomy 3. Deletions 4. Du plications 5. Inversions 6. Translocations 7. Ring chromosomes 8. Marker chromosomes 9. Fragile sites and breaks 10. mosaicism
Abnormalities of Chromosome number Heteroploid(异倍体) Any chromosome number other than 46 (1) Euploid(整倍体) An exact multiple of the haploid chromosome number (n), where n=23 (2) Aneuploid(非整倍体) Any chromosome number that is not an exact multiple of the haploid number(n)
Abnormalities of Chromosome Number • Heteroploid（异倍体） – Any chromosome number other than 46 (1) Euploid （整倍体） – An exact multiple of the haploid chromosome number (n), where n = 23 (2) Aneuploid （非整倍体） – Any chromosome number that is not an exact multiple of the haploid number (n)
Triploidy(三倍性) Most often due to fertilization by two sperm (dispermy) or occasionally a diploid sperm or gg Partial hydatidiform moles(remnants of placenta# small atrophic fetus): triploid with extra paternal set Mole: from the latin mola, for false conception Extra maternal set: early spontaneous abortions
Triploidy（三倍性） • Most often due to fertilization by two sperm (dispermy) or occasionally a diploid sperm or egg • Partial hydatidiform moles (remnants of placenta ± small atrophic fetus): triploid with extra paternal set – Mole: from the Latin mola, for false conception • Extra maternal set: early spontaneous abortions
Molar pregnancies Partial mole. Complete mole: no remnants of fetal fetal tissues tissue(embryonic · Risk for ovarian and or teratoma or extraembryonic) choriocarcinoma Triploid, paternal Diploid but all chromosomes are maternal or paternal, respectively
Molar pregnancies • Partial mole: remnants of fetal tissue (embryonic and/or extraembryonic) • Triploid, paternal • Complete mole: no fetal tissues • Risk for ovarian teratoma or choriocarcinoma • Diploid but all chromosomes are maternal or paternal, respectively