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Pediatric Surgery
Down Syndrome
Aneuploid
Normal
Human body
cell Diploid
Aneuploidyisthepresenceofanabnormalnumberofchromosomesinacell,suchashaving45or47
chromosomeswhen46isexpected.
Meiosis in reproduction
Homologue chromosome
from the father and mother
Male
and
female
gamete
s unite
in
fertiliza
tion
Meiosi
s
Parent Diploid
Gamete
Haploid
Child Diploid
Male
and
female
gamete
s unite
in
fertiliza
tion
Meiosi
s
error
Parent Diploid
Gamete
Aneuploid
Child
Aneuploid
Nagaoka SI, et al. Nature Reviews Genetics 13, 493-504 (July 2012) |
The more advanced is the female age, the long would the Dictyate arrest stands, and the
homologue pairing deteriorates
Nagaoka SI, et al. Nature Reviews Genetics 13, 493-504 (July 2012) |
doi:10.1038/nrg3245
Primary
oocyte
Meiosis
I
or
Nagaoka SI, et al. Nature Reviews Genetics 13, 493-504 (July 2012) |
Whole genome
amplification
of the Trios
DNA
Genotyping
Phasing:
connect the
dots of
genotype
alleles
Genotyping:
Phasin
g:
oocyt
e
oocy
te
Zanders SE, Malik HS, Curr Biol. Volume 25, Issue 15, pR654R656, 3
August 2015
Recombination protects
against aneuploidy
Summary
A new, reverse segregation pattern exists in
human meiosis and is error-prone for meiosis II
(23%)
---additional origins of aneuploidy
Global recombination rates protects agaist
aneuploidy
Recombinant chromatids are twice likely to
pass down to the
oocytes, i.e. the next generation, at meiosis II
---positive selection for recombinant chromatids
Pitfalls
Observations were under the influence of ART, e.g. the ovarian
stimulation and oocyte activation
---incidence of aneuploidy has been proved to be different
compared with natural cycles
Interference of whole genome amplification on aneuploidy
detection and phasing
In case of aneuploidy, the phasing algorithm would be affected
Gaps still exist between inference and interpretation of the
MeioMap
Impacts:
three high-impact comment articles following its
publication
changed the dogma on female meiosis and genetic
evolution
Discussions