Pentasomy X Syndrome

Pentasomy X syndrome is a condition that affects females, adding three more X chromosomes to the standard two generally present in women. This conditions produces five total X chromosome in women, thus, causing retardation, physical abnormalities, and malformations in the face and skull region.

Facts

• Human genes are found in everyone's chromosomes and are naturally distributed per gender. In a normal person, there are a total of 46 chromosomes which are further divided into 23 pairs. From this, the last of the 23 pairs are the person's sex chromosome. Males have both X and Y chromosome while females have two X chromosomes. Pentasomy X syndrome adds three more chromosomes, totaling 49. This condition was first discovered in 1961.

Symptoms

• There are simple and noticeable symptoms of Pentasomy X syndrome even before the affected baby's birth. The baby exhibits delayed growth inside the mother's womb which can also be termed as prenatal growth deficiency. After birth, the baby does not grow or gain weight at the expected time. As this syndrome heavily affects the brain, the child has difficulty acquiring skills which require physical and mental activities.

Physical Appearance

• One can tell that a female has Pentasomy X syndrome by looking at her facial features. Females with this disorder have characteristic malformations in the skull as well as the facial region. This abnormality leads to a smaller than normal face, upslanting folds of her eyelids, a rounded face, malformed ears, a flat nose bridge, low hairline and a short neck. Aside from the face, the hands and arms can be physically deformed as well.

Diagnosis

• Pentasomy X syndrome can be identified as early as the prenatal age although this is not done most of the time. Clinical examination involving detection of physical deformities and chromosomal analysis are done to diagnose this syndrome. Procedures include analysis of the fluid found around the developing fetus and also obtaining tissue samples in the placenta.

Treatment

• The treatment for Pentasomy X syndrome depends on the symptoms presented by the affected female. This may involve a huge medical team which includes surgeons, physicians and pediatricians. Corrective surgery can be one option for affected women who have malformed physical appearances. To facilitate normal mental development of the child with this syndrome, special education and special physical therapy should be provided.