Monosomy

Monosomy is a form of aneuploidy with the presence of only one chromosome (instead of the
typical two in humans) from a pair. Partial monosomy occurs when only a portion of the chromosome
has one copy, while the rest has two copies.
Aneuploidy is a condition in which the chromosome number is not an exact multiple of the
number characteristic of a particular species. An extra or missing chromosome is a common
cause of genetic disorders including human birth defects. Some cancer cells also have
abnormal numbers of chromosomes. Aneuploidy originates during cell division when the
chromosomes do not separate properly between the two cells. This generally happens
when cytokinesis begins while karyokinesisis still under way.

Human conditions due to monosomy:

Allosome monosomy:
Turner syndrome - Women with Turner syndrome typically have one X chromosome instead of
the usual two sex chromosomes. Turner syndrome is the only full monosomy that is seen in
humansall other cases of full monosomy are lethal and the individual will not survive
development.
Turner syndrome is named after Henry Turner, the endocrinologist who first described it in
1938.
UllrichTurner syndrome (Gonadal dysgenesis), 45,X, encompasses several conditions in
human females, of which monosomy X (absence of an entire sex chromosome, the Barr
body) is most common. It is a chromosomal abnormality in which all or part of one of the sex
chromosomes is absent or has other abnormalities (unaffected humans have 46
chromosomes, of which two are sex chromosomes). In some cases, the chromosome is
missing in some cells but not others, a condition referred to as mosaicism or "Turner
mosaicism".
Occurring in range of 1 in 2000 1 in 5000 females, the syndrome manifests itself in a
number of ways. There are characteristic physical abnormalities which affect many but not all
people with Turner syndrome, such as short stature, swelling, broad chest, low hairline, low-
set ears, and webbed necks. Girls with Turner syndrome typically experience gonadal
dysfunction (non-working ovaries), which results in amenorrhea (absence of menstrual cycle)
and sterility. Concurrent health concerns may also be present, including congenital heart
disease,hypothyroidism (reduced hormone secretion by the thyroid), diabetes, vision
problems, hearing concerns, and many autoimmune diseases. Finally, a specific pattern of
cognitive deficits is often observed, with particular difficulties in visuospatial, mathematical,
and memory areas. They have life expectancies of 13 years of age.
Treatment
As a chromosomal condition, there is no cure for Turner syndrome. However, much can be done to
minimize the symptoms
1. Growth hormone, either alone or with a low dose of androgen, will increase growth and
probably final adult height. Growth hormone is approved by the U.S. Food and Drug
Administration for treatment of Turner syndrome and is covered by many insurance
plans. There is evidence that this is effective, even in toddlers.
2. Estrogen replacement therapy such as the birth control pill, has been used since the
condition was described in 1938 to promote development of secondary sexual
characteristics. Estrogens are crucial for maintaining good bone integrity, cardiovascular
health and tissue health. Women with Turner Syndrome who do not have spontaneous
puberty and who are not treated with estrogen are at high risk for osteoporosis and heart
conditions.


Autosome monosomy:
Cri du chat syndrome - a partial monosomy also known as chromosome 5p deletion
syndrome, 5p- (5p minus) syndrome or Lejeunes syndrome, is a rare genetic disorder due
to a missing part (deletion) of chromosome 5. Its name is a French term (cat-cry or call of the
cat) referring to the characteristic cat-like cry of affected children. It was first described
by Jrme Lejeune in 1963. The condition affects an estimated 1 in 50,000 live births, strikes all
ethnicities, and is more common in females by a 4:3 ratio.
Approximately 90% of cases result from a sporadic, or randomly occurring, de
novo deletion. Most cases involve total loss of the most distant 10-20% of the
material on the short arm. Fewer than 10% of cases have other rare cytogenetic
aberrations (e.g., interstitial deletions, mosaicisms, rings and de novo translocations).
The deleted chromosome 5 is paternal in origin in about 80% of de novo cases.

Diagnosis is based on the distinctive cry and accompanying physical problems.
Seeing as these symptoms are quite easily observable, affected children are typically
diagnosed by a doctor or nurse at birth. Children may be treated by speech, physical
and occupational therapists.

1p36 Deletion Syndrome -- a partial monosomy caused by a deletion at the end of the short p
arm of chromosome 1
1p36 Deletion Syndrome is a congenital genetic disorder caused by the deletion of the
most distal light band of the short arm of chromosome 1. Chromosome 1 is the largest
human chromosome and represents about 8 percent of the total DNA in human cells. The "p"
stands for the short or 'petite' arm of the chromosome. '36' stands for the location of the
deletion on the chromosome.
The breakpoints for 1p36 Deletion Syndrome have been variable and are most commonly
found from 1p36.13 to 1p36.33. 40 percent of all breakpoints occur 3 to 5 million base
pairs from the telomere. The size of the deletion ranges from approximately 1.5 million base
pairs to greater than 10 million. Studies have suggested that the larger the deletion, the more
severe the symptoms exhibited in the individual, but this has not been proven definitively.
Most deletions in chromosome 1p36 are new mutations, that occur before fertilization, during
the formation of gametes (eggs or sperm). There have also been reports of patients with
1p36 deletion syndrome whose parents have a balanced or symmetrical translocation. This
means a portion of one chromosome is transferred to another chromosome, so the parent
has the "36" portion of chromosome 1 attached in an alternate location. When this occurs,
cell division creates gametes that are missing a piece of 36.
In new mutations, the mechanism causing chromosome breakage is unknown. Deletions of
paternal origin (father) are larger than the deletions deriving from the maternal (mother)
chromosome. The majority of deletions are maternally derived. There do not seem to be
differences in the clinical manifestations (the symptoms or observable conditions which are
seen as a result of 1p36) based on whether the deletion is on the paternal or maternal
chromosome.
Complications:
Developmental delay
Behavioral differences
Feeding difficulties
Cerebral atrophy
Small head
Vision problems
Hearing loss
Growth abnormalities

Although 1p36 Deletion Syndrome can be debilitating in many ways, patients do respond to various
treatments and therapies. These include the following:
American Sign Language: Because few individuals with Monosomy 1p36 develop complex
speech, an alternate form of communication is critical to development. Most patients can
learn basic signs to communicate their needs and wants. This also appears to reduce
frustration and may reduce self-injurious tendencies. Children with hearing loss will often
qualify for locally sponsored sign language classes.
Music: Music has been shown to aid children with 1p36 deletion in various developmental
areas. It serves as an excellent auditory stimulus and can teach listening skills. Songs with
actions help the child to develop coordination and motor skills.
Physical Therapy: Due to low muscle tone, patients with 1p36 Deletions take a great deal of
time to learn to roll over, sit up, crawl and walk. However, regular physical therapy has
shown to shorten the length of time needed to achieve each of those developmental
milestones.