PENTA X
SYNDROME
- 49, XXXXX Chromosome Constitution
- 49, XXXXX Karyotype
- 49,XXXXX Syndrome
- Pentasomy X
- XXXXX Syndrome
In Penta X Syndrome, there are three additional (or a total
of five) X chromosomes in the nuclei of body cells (pentasomy X).
The condition is
typically characterized by:
Moderate to severe
mental retardation, short stature, malformations of the skull and facial
region, and other physical abnormalities.Characteristic craniofacial malformations may include
upslanting eyelid folds, a flat nasal bridge, malformed ears, a short neck with
a low hairline.
Penta X Syndrome is characteristically associated with growth
delays before birth.
Females with Penta X Syndrome have 49 chromosomes, five of
which are X chromosomes. The presence of the three additional X chromosomes
results from errors during the division of reproductive cells in one of the
parents (nondisjunction during meiosis).
Evidence suggests that
the extra X chromosomes are typically derived from the mother.
Researchers indicate
that the risk of such errors may increase with advanced parental age.
http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/790/viewFullReport
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