49 XXXXX SYNDROME: WHAT IS 49 XXXXX SYNDROME?
Definition: What is "49 XXXXX Syndrome"?
The 49 XXXXX syndrome (also called as Penta X or pentasomy X) is a chromosomal condition that affects females. In a normal setup, females have only two X chromosomes & anything beyond this is abnormal. In the case of Penta X syndrome, there are an additional three X chromosomes which now totals five. The three additional X chromosomes are the ones that cause multiple problems. These extra X chromosomes are formed together with the two healthy chromosomes inside the nucleus of the human body cells.
There are no known environmental factors or even age factors that cause the Penta X syndrome. This condition is actually a result of some errors during reproductive cell division in one of the two parents. All other information pertaining to it is limited as there are only a few studies about this chromosomal abnormality.
This syndrome is listed as a rare condition which means it affects less than 200,000 of the US population.
Characteristics & Features
This chromosomal defect shows several malformations & defects. The various traits that are present on this syndrome are: retardation of the patient's mental development (this could range from the mild type to the most severe cases); the craniofacial abnormalities (these range from cranial malformations to facial defects) ; being short (even if the family consists of tall members); having a small head that appears to be not proportionate to the body; retardation on fetal growth; & many other physical defects. Secondary sexual features could be stunted with the presence of three more x chromosomes. This means that the patient could have underdeveloped ovaries & uterus which could result to infertility when the child grows up. Infertility is not the only thing that the patient has to worry about. There are other additional problems such as irregular menstrual period or not having menstruation at all. The more complex cases of symptoms of Penta x syndrome include renal & heart problems. If left untreated, these could lead to multiple medical complications. The less common symptoms of Penta X syndrome are colobomota (where the affected part of the eye is the iris); ears that are low-set; an overly large tongue; & cleft palate.
Unlike other abnormalities of the chromosome where there are numerous support groups that give help to the patients & the family members, there have been very few professionals that extend help to Penta X patients (more so to their families).