History of the Patau Syndrome - 1850 Words

Patau Syndrome, otherwise known as T13 is a very rare and lethal genetic disorder in which a person has three copies of chromosome 13 instead of two. T13 is characterized by the presence of an assortment of heart and brain malformation in newborns. Children with the disease are often born with multiple birth defects that are normally associated with T13 but not limited to it, including small eyes, undescended testicles, cleft lip/palate, and they consistently exhibit signs of mental deficiency and/or retardation. Approximately 1 in 10,000 newborns are born with Patau Syndrome each year. I choose this rare disease because not only is it unheard about but the present dilemma plaguing the medical field on whether or not a child born with this disease should be given adequate care for survival is shocking. Everyone deserves to be administered the best possible treatments available regardless of what their â€Å"quality of life† is determined to be. Examining the physiological aspects and treatments available for T13 show that there should be no standard to which children born with the disease should be given higher priority with treatment based on severity. Clinical Perspective History In 1656, Thomas Bartholin described developmental birth defects characteristic to those present in newborns diagnosed with T13, only in that time is referred to as cytogenetic syndrome. It wasn’t until 1960 that German physician Klaus Patau discovered the underlying genetic cause by looking at theShow MoreRelatedAssignment On Chromosomal Abberations And Down Syndrome3568 Words   |  15 Pages TERM PAPER EVALUATION ON CHROMOSOMAL ABBERATIONS AND DOWN SYNDROME GUIDED BY: SUBMITTED BY: Dr. SANJEEV KUMAR (Sr.) SHRUTI DHAMEJA BSM/13/104 B.Sc (H) MEDICAL BIOTECH DECLARATION I hereby declare that the term paper entitled â€Å"CHROMOSOMAL ABBERATIONS AND DOWN SYNDROME† submitted to AMITY INSTITUTE OF BIOTECHNOLOGY, is a record of an  original work done by me under the  guidance of Dr. SANJEEV KUMAR (Sr.) and this project work has not  performed