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1. This can result in chromosomal problems, such as aneuploidy, which are abnormalities in
chromosome numbers that are most easily detected from a karyotype. Aneuploidy is a condition
in which one or more chromosomes are duplicated or missing from a complete set of
chromosomes. Monosomy is a term used to describe the loss of a single chromosome from a
diploid genome. Nondisjunction, which occurs when pairs of homologous chromosomes or sister
chromatids fail to split during meiosis, causes trisomy, which is the gain of one chromosome.
Nondisjunction can be caused by misaligned or incomplete synapsis, or a malfunction of the
spindle mechanism, which aids chromosomal migration. The likelihood of nondisjunction
increases with the parents' age.

Example: Turner syndrome, characterized as an X0 genotype, corresponds to a phenotypically female


individual with short stature, webbed skin in the neck region, hearing and cardiac impairments, and
sterility. And, Cri-du-chat, is a syndrome associated with nervous system abnormalities and identifiable
physical features that result from a deletion of most of 5p. Infants with this genotype emit a characteristic
high-pitched cry on which the disorder’s name is based.

2. In many species, life is prolonged via a single-cell bottleneck between generations. This cell
stores information in two places: a linear DNA sequence that is reproduced during cell divisions
and a three-dimensional arrangement of molecules that can alter during development but is
regenerated at the start of each generation. While an organism is alive, these two interdependent
stores of information — one reproducing with each cell division and the other cycling for one
generation – and that is to co-evolve. The organization of molecules, including DNA, RNAs,
proteins, carbohydrates, lipids, and others, is not fully understood, unlike the genome sequence.

Because this organization and the genome sequence are passed down from generation to
generation, understanding the evolution and origins of inherited disorders necessitates an
examination of both.
Recent findings show that methods exist to investigate how all of the information required to
make an organism is encoded within a single cell, and how this cell code is passed down through
generations.

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