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Wilson Turner Syndrome
Transcript
Symptoms
Genetic basis - inheritabity
Phenotype Change
- Female carriers showed complex X inactivation, with preferential silencing of the mutant allele.
- The transmission pattern in the family with syndrome mental retardation was consistent with X-linked dominant inheritance.
- X (female)
- Absent or defect of a whole sex chromosome
- Affect in 1 out of every 2500 female live births
- Half have x chromosome monosomy
- Other half are mosaics (the chromosome is missing in some cells but not others)
- short stature, swelling, broad chest, low hairline, low-set ears, and webbed necks.
- Non-working ovaries
- heart disease, hypothyroidism (reduced hormone secretion by the thyroid), diabetes, vision problems, hearing concerns, and many autoimmune diseases.
- difficulties in visual, mathematical, and memory areas.
Survivability
Chromosomes Map
Wilson Turner Syndrome
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