LEIGH’S DISEASE

 A rare genetic disorder characterized by progressive damage to the central nervous

system.
 It is caused by a defect in the function of mitochondria within the cells of the body.
Symptoms begin in infancy and include poor sucking ability, the loss of head control and
motor skills, loss of appetite, vomiting, irritability, continuous crying, and seizures.
Symptoms may also include generalized weakness, lack of muscle tone, and episodes of
lactic acidosis, which can lead to impairment of respiratory and kidney function.
 There is also a form of Leigh's disease (called X-linked Leigh's disease) which is the result
of mutations in a gene that produces another group of substances that are important for
cell metabolism. This gene is only found on the X chromosome.

Most common treatment is thiamine or Vitamin B1.

In Leigh’s Syndrome, the genetic mutations in mitochondrial DNA interfere with the energy sources
that run cells in an area of the brain that plays a role in motor movements. The primary function of
mitochondria is to convert the energy in glucose and fatty acids into ATP. Genetic mutations in
mitochondrial DNA, therefore, result in a chronic lack of energy in these cells, which in turn
affects the central nervous system and causes progressive degeneration of motor functions.

ALZHEIMER’S DISEASE

It is a progressive disease that destroys memory and other important mental functions.
Someone with Alzheimer's disease may notice mild confusion and difficulty remembering.
It is the most common cause of dementia — a group of brain disorders that cause the loss of intellectual
and social skills. In Alzheimer's disease, the brain cells degenerate and die, causing a steady decline in
memory and mental function.

NONDISJUNCTION

 Nondisjunction occurs in cell division when chromosomes do not divide properly.

 When a cell divides, the chromosomes line up in an orderly way and then separate from each
other before cell division. When these chromosomes fail to separate properly, nondisjunction
has occurred.
 The resulting daughter cells have an incorrect number of chromosomes; one may have
too many, while another may have too few. This causes problems in cell function because a
cell cannot function normally without the right amount of chromosomes.
 It can occur during mitosis, meiosis I, or meiosis II.

TURNER SYNDROME
 Turner syndrome, a condition that affects only females, results when one of the X
chromosomes (sex chromosomes) is missing or partially missing.
 It can cause a variety of medical and developmental problems, including short height, failure of
the ovaries to develop and heart defects.
  Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early
childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the
diagnosis is delayed until the teen or young adult years.
 Newborns with TS may have swollen hands and feet

CRI-DU-CHAT SYNDROME

 It also known as 5p- (5p minus) syndrome or cat cry syndrome, is a genetic condition
that is caused by the deletion of genetic material on the small arm (the p arm) of chromosome
5.
 The disorder is characterized by intellectual disability and delayed development, small
head size, low birth weight, weak muscle tone in infancy, and distinctive facial features.
 Most cases of cri du chat syndrome are not inherited. The deletion occurs most often as a
random event during the formation of reproductive cells (eggs or sperm) or in early fetal
development.
 In most cases, the chromosome break happens while the parent’s sperm or egg cell is still
developing. This means the child develops the syndrome when fertilization occurs.
 According to the “Orphanet Journal of Rare Diseases”, the chromosome deletion comes from
the father’s sperm in about 80 percent of cases.
 According to the “National Human Genome Research Institute”, the syndrome is not typically
inherited, though. Only about 10 percent of cases come from a parent who has a deleted
segment. About 90 percent are presumed to be random mutations.

KLINEFELTER SYNDROME

 Klinefelter syndrome is named after Dr. Henry Klinefelter, who first described a group of
symptoms found in some men with the extra X chromosome.
 It is also known as the XXY condition, is a term used to describe males who have an extra X
chromosome in most of their cells. Instead of having the usual XY chromosome pattern that
most males have, these men have an XXY pattern.
 Not every male with an XXY pattern has all the symptoms of Klinefelter syndrome.
 Scientists believe the XXY condition is one of the most common chromosome abnormalities in
humans.
 About one of every 500 males has an extra X chromosome, but many don't have any
symptoms.
 Symptoms depend on how many XXY cells a man has, how much testosterone is in his body,
and his age when the condition is diagnosed.
 As XXY males enter puberty, they may have a taller, less muscular body, less facial and body
hair, and broader hips than other boys. As teens, XXY males may have larger breasts, weaker
bones, and a lower energy level than other boys.

DOWN SYNDROME
  The nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from
each parent. Down syndrome occurs when an individual has a full or partial extra copy of
chromosome 21.
 Maternal age is the only factor that has been linked to an increased chance of having a
baby with Down syndrome resulting from nondisjunction or mosaicism. However, due to
higher birth rates in younger women, 80% of children with Down syndrome are born to
women under 35 years of age.
 According to the Centers for Disease Control and Prevention, approximately one in every 700
babies in the United States is born with Down syndrome, making Down syndrome the most
common chromosomal condition. About 6,000 babies with Down syndrome are born in the
United States each year.

Types of Down syndrome

Trisomy 21 (Nondisjunction)

 Down syndrome is usually caused by an error in cell division called “nondisjunction.”

Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual
two.

 Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to
separate. As the embryo develops, the extra chromosome is replicated in every cell of the
body. This type of Down syndrome, which accounts for 95% of cases, is called trisomy 21.

MOSAICISM

 Mosaicism (or mosaic Down syndrome) is diagnosed when there is a mixture of two types
of cells, some containing the usual 46 chromosomes and some containing 47. Those cells with
47 chromosomes contain an extra chromosome 21.

 Mosaicism is the least common form of Down syndrome and accounts for only about 1% of all
cases of Down syndrome.

TRANSLOCATION

In translocation, which accounts for about 4% of cases of Down syndrome, the total number of
chromosomes in the cells remains 46; however, an additional full or partial copy of chromosome 21
attaches to another chromosome, usually chromosome 14. The presence of the extra full or partial
chromosome 21 causes the characteristics of Down syndrome.

Cunha, J. (n.d.).Klinefelter syndrome facts. Retrived from

https://www.medicinenet.com/klinefelter_syndrome/article.htm#klinefelter_syndrome_facts