Aneuploidy

The earliest depiction of a person with Down syndrome was dated in 1515 in a Flemish painting. Doctor John Langdon Down described Down syndrome as a disorder in 1866, however he misunderstood on how the syndrome first came about. The cause to Down syndrome was discovered recently in 1959 as being the common cause of cognitive impairments. All individuals who contain down syndrome show symptoms of mild to moderate learning disability, distinctive facial features, and hypotonic in early infancy. Down

How Individuals with Down Syndrome can Prosper in Life Roger is a handsome blonde, blue-eyed boy but one can tell he is different from most other children.  His physical features are somewhat strange.  Roger's face is broader and his nasal bridge flatter than usual.  And his eyes, they appear to slant upward and have folds at the inner corners.  His mouth is small and the roof of his mouth is very narrow.  Not to mention his small ears which fold over a bit at the top.  Touching his hands they

INTRODUCTION Congenital Heart Defects (CHDs) include all structural anomalies of the heart and the intrathoracic great vessels resulting from the errors in morphogenesis, during development. The incidence of CHDs among live births is estimated to be 3.7 to 7.7 per 1000 (Ferencz et al. 1985). CHDs are etiologically heterogenous and it could be due to genetic (single gene defects, chromosomal abnormality) and or environmental (multifactorial, teratogens) or unknown factors (Michels and Ricardi

Johnson-Munson syndrome is a rare syndrome identified by missing abnormal vertebrae, fingers and toes and various deformities of the heart, lungs, intestines, pancreas and intestines. Ophanet a consortium of European partners defines a condition as rare. In the US population, less than 200,000 people can possibly be affected by Johnson Munson Syndrome or second type of Johnson Munson syndrome. (Orphanet 2015) Johnson Munson syndrome will start within the DNA from the formation of the fetus at birth

What is Turner Syndrome? Turner Syndrome was named after Dr. Henry Turner who discovered it in 1938, but also referred to as Ullrich-Turner, Bonnevie-Ullrich-Turner, and Gonadal Dysgenesis. This syndrome occurs in 1 out of 200,000 females. Making it a rare syndrome that only 70,000 people in the whole world has. Turner syndrome is a lifelong condition. Most people live long and healthy lives, yet some are susceptible to numerous chronic conditions. Genes are passed on to a child from each parent

Dr. F. Albright and Dr. H. F. Klinefelter were two endocrinologists working at Boston Massachusetts General Hospital in 1942 that were examining nine adult males that ranged in age from 17 to 38. They were all experiencing common symptoms that were unusual to say the least. These symptoms seemed to manifest during their adolescent years and they were described as having bilateral gynecomastia, unusually small testicles, aspermatatogensis, increased follicle stimulating hormone levels or FSH and

Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome is a common genetic condition affecting only males. It mostly affects testicular growth, and this can result in smaller than normal testicles. This can lead to lower production of the sex hormone testosterone. Klinefelter syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. The effects of Klinefelter syndrome affect

Trisomy 21(Down Syndrome) is one of the most common types of chromosomal mutation. First published by John Langdon Down in 1866 and associated with chromosomes in 1959 by Jerome Lejeune, this mutation has affected thousands of infants around the world. The main cause for Down Syndrome is the formation of a 2 chromosome coming together in addition to another that does not belong. This produces extra genetic material. This occurs in the 21st chromosome of a human karyotype and this causes the newborn

I already knew that XX meant the gender was a girl, it's just that I heard of XX male syndrome, so I thought that was the disorder. By the way, thanks a lot. Find out what syndrome the possessor of this genotype has, and write about the disease. Also find out anything you can about chromosome 21 and what it effects. This paper should be about 750 words and use at least three separate sources. Cite your sources, and be certain to put the information in your own words. Use paragraphs with complete

Edward’s Syndrome or also known as Trisomy 18 is a very serious and uncommon disorder, and there are three types of this disorder: Full, Partial, and Mosaic Trisomy 18. Trisomy 18 is a chromosomal condition that affects not only one part of the body, but usually many different limbs. Five to ten percent of the individuals with this disorder can live their lives with it, but they have to deal with severe disabilities. Since Edward’s Syndrome is not common, there are only a few solutions for the