Monosomy

Monosomy is a type of aneuploidy where there is a loss of a single chromosome of the normal
complement. The chromosomal composition is represented by 2N-1. A cell or an organism exhibiting
monosomy is referred to as monosomic. Monosomy may be caused by a nondisjunction during cell
division, particularly meiosis. A Human monosomic zygote has 45 Chromosome.

Causes

Monosomy may be caused by a “non disjunction” during cell division, particularly meiosis when this
happens one gamete shows monosomy and other show trisomy of same chromosome.

Explanation

The monosomic a lack a complete chromosome and this create genetic imbalance as the expression
of only one allele at each locus of chromosome is inadequate. The expression of genetic information
during early development is very delicately neglected so that a sensitive equilibrium of gene product
is required to ensure normal development due to loss of one chromosome in monosomic this
equilibrium is not achieved, therefore “monosomy is not tolerated in diploid”.

One of first aneuploids to be recognized was a first fruit fly with single X chromosome and no Y
chromosome discovered by Calvin Bridges in 1913.

In non disjunction, white eye female goes into white eye female and red eye male goes into red eye
male so they produce offspring similar to parents but in disjunction they produce different offspring
then parents.

Bridges hypothesis predicted that white eye female from these crosses would posses two X
chromosomes and one Y chromosome and that red eye male would possess a single chromosome.

Examples of Monosomy In Human

1. Cri-du-chat (cat's cry) syndrome 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.
2. 1p36 deletion syndrome include end of short p arm of chromosome 1 is missing. 1p36
deletion syndrome is a congenital genetic disorder characterized by moderate to severe
intellectual disability, delayed growth, hypotonia, seizures, limited speech ability,
malformations, hearing and vision impairment, and distinct facial features.
3. Turner syndrome
Turner syndrome, a condition that affects only females, results when one of the X
chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause
a variety of medical and developmental problems, including short height, failure of the
ovaries to develop and heart defects.

The abnormality is not inherited from an affected parent ( not passed from parent to child ).
Because women with Turner syndrome are usually sterile and can not have children.

Characteristic

 Being shorten than average in height.

 A lack of development of ovaries leading to infertility.
 Wide or web like neck.
 Low set ears.
 Arms that turn outward at elbow.
 Finger nails and toenails that are narrow and turned upward.
 Swallow hand and feet.
 Infertility.
 Vaginal dryness.
 No periods ( absent menstruation).
 A broad chest and widely spaced nipples.

Diagnosis

Doctors take a blood sample of patent and make karyotype to predict disease. It may be diagnose
during pregnancy with a “chorionic villus sampling” ( CVS ) or “amniocentesis” alternatively and
“ultrasound”.

Monosomy in Honey Bees

In Honey Bees parthenogenesis produce haploid organism. In honey bees, queens and drones are
diploid while workers are haploid and are produce by parthenogenesis. Here egg is changed into
zygote without fertilization.

Monosomy in Plants

Monosomy has been observed in Maize and Tobacco. Such monosomic plants are usually less viable
then their diploid derivatives. The monosomic can easily be produced in polyploids. A polyploid has
several chromosome of same type and therefore loss of can be easily tolerated.

The number of possible monosomic in as organism will be equal to haploid chromosome number. In
common wheat, since 21 pairs of chromosome are present , 21 possible monosomic are known.

Double Monosomic (2n-1-1)

Loss of two chromosomes are also found but these differ from nullisomic in respect that
chromosome lost are non homologous.

Triple Monosomic (2n-1-1-1)

It is produce in polyploids like wheat.