Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a

chromosomal condition that results when a piece of chromosome 5 is missing.

Infants with this condition often have a high-pitched cry that sounds like that of a
cat. The disorder is characterized by intellectual disability and delayed
development, small head size (microcephaly), low birth weight, and weak muscle
tone (hypotonia) in infancy. Affected individuals also have distinctive facial features,
including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded
face. Some children with cri-du-chat syndrome are born with a heart defect.
Down syndrome
From Wikipedia, the free encyclopedia
Down syndrome
Synonyms Down's syndrome
Drill.jpg
A boy with Down syndrome assembling a bookcase
Classification and external resources
Specialty
Medical genetics, pediatrics
ICD-10
Q90
ICD-9-CM
758.0
OMIM 190685
DiseasesDB 3898
MedlinePlus 000997
eMedicine ped/615
Patient UK Down syndrome
MeSH D004314
[edit on Wikidata]
Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder
caused by the presence of all or part of a third copy of chromosome 21.[1] It is
typically associated with physical growth delays, characteristic facial features and
mild to moderate intellectual disability.[2] The average IQ of a young adult with
Down syndrome is 50, equivalent to the mental ability of an 8- or 9-year-old child
but this can vary widely.[3]
The parents of the affected individual are typically genetically normal.[4] The extra
chromosome occurs by chance.[5] The possibility increases from less than 0.1% in
20-year-old mothers to 3% in those age 45.[6] There is no known behavioral activity
or environmental factor that changes the possibility.[5] Down syndrome can be
identified during pregnancy by prenatal screening followed by diagnostic testing or
after birth by direct observation and genetic testing.[7] Since the introduction of
screening, pregnancies with the diagnosis are often terminated.[8][9] Regular
screening for health problems common in Down syndrome is recommended
throughout the person's life.[3]
There is no cure for Down syndrome.[10] Education and proper care have been
shown to improve quality of life.[11] Some children with Down syndrome are
educated in typical school classes, while others require more specialized education.
[12] Some individuals with Down syndrome graduate from high school and a few
attend post-secondary education.[13] In adulthood, about 20% in the United States
do paid work in some capacity[14] with many requiring a sheltered work
environment.[12] Support in financial and legal matters is often needed.[15] Life

expectancy is around 50 to 60 years in the developed world with proper health care.
[3][15]
Down syndrome is one of the most common chromosome abnormalities in humans.
[3] It occurs in about one per 1000 babies born each year.[2] In 2013, Down
syndrome was present in 8.5 million individuals and resulted in 36,000 deaths down
from 43,000 deaths in 1990.[16][17] It is named after John Langdon Down, the
British doctor who fully described the syndrome in 1866.[18] Some aspects of the
condition were described earlier by Jean-tienne Dominique Esquirol in 1838 and
douard Sguin in 1844.[19] The genetic cause of Down syndromean extra copy
of chromosome 21was identified by French researcher Jrme Lejeune in 1959.
What is Down Syndrome?
Down syndrome (or Trisomy 21) is a naturally occurring chromosomal arrangement
that has always been a part of the human condition, being universally present
across racial, gender or socioeconomic lines, and affecting approximately 1 in 800
live births, although there is considerable variation worldwide. Down syndrome
usually causes varying degrees of intellectual and physical disability and associated
medical issues.
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 males, and it often isn't diagnosed until adulthood.
Edwards syndrome
From Wikipedia, the free encyclopedia
Edwards syndrome
Synonyms trisomy 18 (T18), chromosome 18 duplication,[1] trisomy E
syndrome[2]
Chromosome 18.svg
Chromosome 18
Classification and external resources
Specialty
Medical genetics, pediatrics
ICD-10
Q91.0-Q91.3
ICD-9-CM
758.2
DiseasesDB 13378
MedlinePlus 001661
eMedicine ped/652
Patient UK Edwards syndrome
MeSH C580500
Orphanet
3380
[edit on Wikidata]
Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the
presence of all, or part of a third copy of chromosome 18. Many parts of the body
are affected. Babies are often born small and have heart defects. Other features
include a small head, small jaw, clenched fists with overlapping fingers, and severe
intellectual disability.[2]
Most cases of Edwards syndrome occur due to problems during the formation of the
reproductive cells or during early development. The rate of disease increases with
the mother's age. Rarely cases may be inherited from a person's parents.
Occasionally not all cells have the extra chromosome, known as mosaic trisomy,

and symptoms in these cases may be less severe.[2] Ultrasound can increase
suspicion for the condition, which can be confirmed by amniocentesis.[1]
Treatment is supportive. After having one child with the condition, the risk of having
a second is typically around one percent.[1] It is the second-most frequent condition
due to a third chromosome at birth, after Down syndrome.[3]
Edwards syndrome occurs in around one in 5,000 live births.[2] Most babies born
with the condition are female.[1] Many of those affected die before birth. Survival
beyond a year of life is around 7.5%.[2] It is named after John Hilton Edwards, who
first described the syndrome in 1960.[4]
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 males, and it often isn't diagnosed until adulthood.
Klinefelter syndrome may adversely affect testicular growth, resulting in smaller
than normal testicles, which can lead to lower production of testosterone. The
syndrome may also cause reduced muscle mass, reduced body and facial hair, and
enlarged breast tissue. The effects of Klinefelter syndrome vary, and not everyone
has the same signs and symptoms.
Most men with Klinefelter syndrome produce little or no sperm, but assisted
reproductive procedures may make it possible for some men with Klinefelter
syndrome to father children.
Klinefelter syndrome
From Wikipedia, the free encyclopedia
Not to be confused with XYY syndrome.
Klinefelter syndrome
Synonyms XXY syndrome, Klinefelter's syndrome
Human chromosomesXXY01.png
47,XXY karyotype
Pronunciation
/klanfltr/
Classification and external resources
Specialty
medical genetics
ICD-10
Q98.0-Q98.4
ICD-9-CM
758.7
DiseasesDB 7189
MedlinePlus 000382
eMedicine ped/1252
Patient UK Klinefelter syndrome
MeSH D007713
[edit on Wikidata]
Klinefelter syndrome (KS) also known as 47,XXY or XXY, is the set of symptoms that
result from two or more X chromosomes in males.[1] The primary feature is sterility.
[1] Often symptoms may be subtle and many people do not realize they are
affected. Sometimes symptoms are more prominent and may include weaker
muscles, greater height, poor coordination, less body hair, smaller genitals, breast
growth, and less interest in sex.[2] Often it is only at puberty that these symptoms
are noticed.[3] Intelligence is usually normal; however, reading difficulties and

problems with speech are more common. Symptoms are typically more severe if
three or more X chromosomes are present.[2]
Klinefelter syndrome usually occurs randomly. An older mother might increase the
risk slightly. The condition is not inherited from one's parents.[4] The underlying
mechanisms involves at least one extra X chromosome in addition to a Y
chromosome such that there is a total of 47 or more chromosomes rather than the
usual 46.[5] KS is diagnosed by the genetic test known as a karyotype.[3]
While there is no cure, a number of treatments may help.[6] Physical therapy,
speech and language therapy, counselling, and adjustments of teaching methods
may be useful. Testosterone replacement may be used in those who have
significantly low levels. Enlarged breasts may be removed by surgery. About half of
males affected with the help of assisted reproductive technology have a chance of
having children; however, this is expensive and carries risks.[7] Males appear to
have a higher risk of breast cancer than typical but still lower than that of females.
[8] The condition has a nearly normal life expectancy.[6]
Klinefelter syndrome is one of the most common chromosomal disorders, occurring
in 1:500 to 1:1000 live male births.[4][9] It is named after Harry Klinefelter who
identified the condition in the 1940s.[10] 1956 saw the identification of the extra X
chromosome.[11] Mice can also have the XXY syndrome, making them a useful
research model.[
Amniocentesis
From Wikipedia, the free encyclopedia
Amniocentesis
Intervention
ICD-9-CM
75.1
MeSH D000649
MedlinePlus 003921
[edit on Wikidata]
Amniocentesis (also referred to as amniotic fluid test or AFT) is a medical
procedure[1] used in prenatal diagnosis of chromosomal abnormalities and fetal
infections,[2] and also used for sex determination in which a small amount of
amniotic fluid, which contains fetal tissues, is sampled from the amniotic sac
surrounding a developing fetus, then the fetal DNA is examined for genetic
abnormalities. The most common reason to have an "amnio" is to determine
whether a baby has certain genetic disorders or a chromosomal abnormality, such
as Down syndrome. Amniocentesis (or another procedure, called chorionic villus
sampling (CVS)) can diagnose these problems in the womb. Amniocentesis is
usually done when a woman is between 14 and 16 weeks pregnant. Women who
choose to have this test are primarily those at increased risk for genetic and
chromosomal problems, in part because the test is invasive and carries a small risk
of miscarriage. This process can be used for prenatal sex discernment and hence
this procedure has legal restrictions in some countries. Amniocentesis was first
introduced by American obstetrician Fritz Friedrich Fuchs and Danish
gastroenterologist Polv Riis in 1956 for fetal sex determination and up to mid 1970s
amniocentesis were done 'blind. Doctors Jens Bang and Allen Northeved from
Denmark were the first to report amniocentesis done with the guide of an
ultrasound in 1972. Chorionic Villus Sampling (CVS) was first performed by Italian

biologist Giuseppe Simoni in 1983. Now real-time ultrasound has been used during
all invasive procedures because it provides the safety of the fetus and accuracy of
results.
Genetic engineering
From Wikipedia, the free encyclopedia
For a non-technical introduction to the topic, see Introduction to genetics. For the
song by Orchestral Manoeuvres in the Dark, see Genetic Engineering (song).
Part of a series on
Genetics
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Genetic engineering, also called genetic modification, is the direct manipulation of
an organism's genome using biotechnology. It is a set of technologies used to
change the genetic makeup of cells, including the transfer of genes within and
across species boundaries to produce improved or novel organisms. New DNA may
be inserted in the host genome by first isolating and copying the genetic material of
interest using molecular cloning methods to generate a DNA sequence, or by
synthesizing the DNA, and then inserting this construct into the host organism.
Genes may be removed, or "knocked out", using a nuclease. Gene targeting is a
different technique that uses homologous recombination to change an endogenous
gene, and can be used to delete a gene, remove exons, add a gene, or introduce
point mutations.
An organism that is generated through genetic engineering is considered to be a
genetically modified organism (GMO). The first GMOs were bacteria generated in
1973 and GM mice in 1974. Insulin-producing bacteria were commercialized in 1982

and genetically modified food has been sold since 1994. GloFish, the first GMO
designed as a pet, was first sold in the United States in December 2003.[1]
Genetic engineering techniques have been applied in numerous fields including
research, agriculture, industrial biotechnology, and medicine. Enzymes used in
laundry detergent and medicines such as insulin and human growth hormone are
now manufactured in GM cells, experimental GM cell lines and GM animals such as
mice or zebrafish are being used for research purposes, and genetically modified
crops have been commercialized.

Chromosomal Abnormalities
Normally, humans have 23 pairs of chromosomes - making 46 in total. This includes
one pair of chromosomes which are the sex chromosomes. The ova and the sperm
each carry 23 chromosomes.
Numerical Aberrations
Structural Aberrations
Chromosomal abnormalities occur when there is a defect in a chromosome, or in the
arrangement of the genetic material on the chromosome. Very often, chromosome
abnormalities give rise to specific physical symptoms, however, the severity of
these can vary from individual to individual.
Abnormalities can be in the form of additional material which may be attached to a
chromosome, or where part or a whole chromosome is missing, or even in defective
formation of a chromosome. Any increases or decreases in chromosomal material
interfere with normal development and function.
There are two main types of chromosomal abnormality which can occur during
meiosis and fertilization: numerical aberrations and structural aberrations.
Numerical Aberrations
These are usually caused by a failure of chromosome division, which results in cells
with an extra chromosome or a deficiency in chromosomes.
Gametes with these anomalies can result in conditions such as Down syndrome
(who have 47 chromosomes instead of 46), or Turner syndrome (45 chromosomes).
Common types of numerical aberrations are: triploidy, trisomy, monosomy and
mosaicism.
172-Karyotype-Turner-syndro.gif 171-Karyotype-Down-syndrome.gif
Karyotype of Turner syndrome (45 chromosomes instead of 46) Karyotype of
Down Syndrome (47 chromosomes instead of 46)
Structural Aberrations
These occur due to a loss or genetic material, or a rearrangement in the location of
the genetic material. They include: deletions, duplications, inversions, ring
formations, and translocations.

Deletions: A portion of the chromosome is missing or deleted. Known disorders

include Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short
arm of chromosome 4; and Jacobsen syndrome, also called the terminal 11q
deletion disorder.
Duplications: A portion of the chromosome is duplicated, resulting in extra genetic
material. Known disorders include Charcot-Marie-Tooth disease type 1A which may
be caused by duplication of the gene encoding peripheral myelin protein 22
(PMP22) on chromosome 17.
Translocations: When a portion of one chromosome is transferred to another
chromosome. There are two main types of translocations. In a reciprocal
translocation, segments from two different chromosomes have been exchanged. In
a Robertsonian translocation, an entire chromosome has attached to another at the
centromere; these only occur with chromosomes 13, 14, 15, 21 and 22.
Inversions: A portion of the chromosome has broken off, turned upside down and
reattached, therefore the genetic material is inverted.
Rings: A portion of a chromosome has broken off and formed a circle or ring. This
can happen with or without loss of genetic material.
Isochromosome: Formed by the mirror image copy of a chromosome segment
including the centromere.
Structural aberrations also include some disorders which are characterized by
chromosomal instability and breakage. One example, is the creation of a fragile site
on the X Chromosome - Fragile X syndrome. Boys are worse affected by this
because they only have one X-Chromosome but even in girls, Fragile X syndrome
can cause learning difficulties.
Most chromosome anomalies occur as an accident in the egg or sperm, and are
therefore not inherited. The anomaly is present in every cell of the body.Some
anomalies, however, can happen after conception, resulting in mosaicism (where
some cells have the anomaly and some do not). Chromosome anomalies can be
inherited from a parent or be "de novo". This is why chromosome studies are often
performed on parents when a child is found to have an anomaly.

if

Karyotype of Turner syndrome (45 chromosomes instead of 46)

Karyotype of Down Syndrome (47 chromosomes instead of 46)