In these conditions, the genetic alteration is of such magnitude that it can be visualized in the chromosomes, either by alterations in their number or by their structure.
Syndromes of alterations due to changes in the number of autosomes.
Patau syndrome.
It is a disease produced by a trisomy of chromosome 13, that is, somatic cells have 44 autosomes, two heterochromosomes and one additional chromosome 13 (44 + 2 sex chromosomes + an additional chromosome 13).
Babies born with this syndrome have characteristics such as:
- Mental deficiency.
- Deafness.
- Polydactyly (more than five fingers on one of the hands or feet).
- Cleft lip.
- Cardiac abnormalities.
In general, it occurs with a frequency of 1 in every 5000 newborns. About 88% of babies with this syndrome die during the first month of life, and a 5 survive until the sixth month.
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Hola @josemmr11, upv0t3
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