DEFINITION OF CHROMOSOMAL ANOMALIES

There are many types of chromosome abnormalities. We can divide it into two basic groups which are
numerical abnormalities and structural abnormalities.

 Numerical Abnormalities:

The condition of monosomy (a missing chromosome) is occurred when an individual is

missing one chromosome from its pair while trisomy (an extra chromosome) is when an
individual has more than two chromosomes instead of a pair.

Example of numerical abnormalities:

Down Syndrome (47 chromosomes- three copies of chromosome 21: Trisomy 21): mental retardation,
learning difficulties, a characteristic facial experience and poor facial muscle tone in infancy
(hypotonia).

Turner Syndrome (45 chromosomes- Monosomy ): usually occurs in female. The female will have
only one sex chromosome, an X. She will be shorter than average and unable to have children
among other difficulties.

 Structural Abnormalities: There are various ways to alter a chromosome’s structure.

STRUCTURAL ABNORMALITIES DEFINITION

Deletions A part of the chromosome is missing or deleted.
Duplications A part of the chromosome is duplicated, resulting
in extra genetic material..
Translocations A part of one chromosome is transferred to
another chromosome.

 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.

Inversions A part of the chromosome has broken off, turned

upside down, and reattached which results with
the genetic material being inverted.

Rings A part of a chromosome has broken off and

formed a circle or ring. This can happen with or
without loss of genetic material.
https://www.genome.gov/about-genomics/fact-sheets/Chromosome-Abnormalities-Fact-Sheet

Terminology

There are specific and important terms for describing chromosomal anomalies from the genetic
field.

TERMS DEFINITION
Aneuploidy The most common chromosomal abnormality
caused by an extra or missing chromosome
Karyotype The full set of chromosomes in a person's
cells
Genotype The genetic constitution determined by the
karyotype.
Phenotype The person's clinical which is external
appearance- the biochemical, physiologic,
and physical makeup as determined by the
genotype (internal information) and
environmental factors
Mosaicism The presence of ≥ 2 cell lines differing in
genotype (internal information) in a person
who has developed from a single fertilized
egg

https://www.msdmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/overview-of-
chromosomal-anomalies
 CAUSES OF CHROMOSOMAL ANOMALIES
CAUSES OF CHROMOSOMAL ANOMALIES EXAMPLES
1 Family history previous child with:
)
 chromosome abnormalities
(such as Down syndrome)
 cleft lip/palate
 heart defects
 mental retardation
 neural tube defects
 short stature
 single gene defects (such
as cystic fibrosis or PKU)
 hearing or visual
impairments
 learning disabilities
 psychiatric disorders
 cancers
 multiple pregnancy losses
(miscarriages, stillbirths or
infant deaths)

2 A parent with an autosomal dominant disorder, or

) any disorder seen in several generations
3 Pregnancy factors (mother older than 35 years)
)
4 Mother with any of the following  schizophrenia
)  depression
 seizures
 alcoholism
 diabetes
 thyroid disorder
 fetal or parental exposure to
certain drugs, chemicals,
radiation or infections
 advanced paternal age at
the time of conception
 infertility cases where either
parent is suspected of
having a chromosome
abnormality
 couples requiring assisted
reproductive techniques to
achieve a pregnancy, or
individuals donating eggs or
sperm for those purposes
 Ethnic groups or geographic
areas with a higher
incidence of certain
disorders, such as Tay
Sachs disease, sickle cell
disease or thalassemias
http://www.childrenshospital.org/conditions-and-treatments/conditions/g/genetic-disorders/symptoms-
and-causes