GROUP 2

Members:
Angelica Delos Ama
Marie Joy Cortez
Crisly Cortez
Princess Corpuz
Carla Dimagiba
HEREDITARY INFLUENCE ON
DEVELOPMENT
 BASIC CONCEPT AND TERMS IN
STUDYING THE INFLUENCE OF HEREDITY
ON CHILD DEVELOPMENT
Child development incorporates,physical growth as
well as intellectual language, emotional,and social
development.whilst these aspect are often considered
separatly, in reality each influence all of the others.for
example as brain develops physically,so intellectual
abilities increase
These are called development milestone,or simply
milestone they describe the typical skills that a young
child acquires by certain ages in the four areas,or
domains,of developmen:motor (physical),
communication and language cognitive,and social
emotional
Chromosomes and Gene
Chromosomes are structures within cells that contain a
person's genes

Chromosomes carry DNA in cells. DNA is responsible

for building and maintaining your human structure.
Genes are segments of your DNA, which give ypu
physical characteristics that make you unique
*Genes are contained in chromosomes, which are in
the nucleus.
*A chromosome contains hundreds to thousands of
genes.
*Every normal human cell contains 23 pairs of
chromosomes, for a total of 46 chromosomes.
* A trait is any gene-determined characteristic and is
often determined by more than one gene.
*Some traits are caused by mutated genes that are
inherited or that are the result of a new gene mutation.
Proteins are probably the most important class of
material in the body. Proteins are not just building
blocks for muscles, connective tissues, skin, and other
structures. They also are needed to make enzymes.
Enzymes are complex proteins that control and carry
out nearly all chemical processes and reactions within
the body. The body produces thousands of different
enzymes. Thus, the entire structure and function of the
body is governed by the types and amounts of proteins
the body synthesizes. Protein synthesis is controlled by
genes, which are contained on chromosomes.
A chromosome is made of a very long strand of DNA and
contains many genes (hundreds to thousands). The genes
on each chromosome are arranged in a particular
sequence, and each gene has a particular location on the
chromosome (called its locus). In addition to DNA,
chromosomes contain other chemical components that
influence gene function.
Chromosomal Abnormalities
What is a Chromosomal Abnormalities?
 A chromosomal abnormalities,or chromosomal
aberration,is a disorder characterized by a morphological or
numerical alteration in single or multiple
chromosomes,affecting autosomes sex chromosomes,or
both. Some chromosomal abnormalities occur when there is
an extra chromosome,while others occur when a section of
a chromosome is deleted or duplicated
Examples of Chromosomal Abnormalities include
• Down syndrome
• Trisomy 18
• Trisomy 13
• Klinefelter syndrome
• XYY syndrome
• Turner syndrome
• Triple X syndrome.
4 types of Chromosomal Abnormalities
1.Deletion
Deletions involve the loss of DNA sequences.
Phenotypic effects of deletions depend on the size and
locationof deleted sequences on the genome.

2.Duplication
A part of a chromosome in which genetic material is
repeated also. One example of a rare genetic disorder of
duplication is called Pallister Killian syndrome, where part of
the #12 chromosome is duplicated.
3.Inversion
A chromosomal defect in which a segment of the
chromosome breaks off and reattaches in the reverse
direction

4.Translocation
A type of chromosomal abnormality in which a
chromosome breaks and a portion of it reattaches to a
different chromosomal location.
What is the common chromosome
abnormality?
 The most common type of chromosomal abnormality is
known as aneuploidy, an abnormal chromosome number
due to an extra or missing chromosome.
CAUSES OF CHROMOSOMAL ABNORMALITIES
 A chromosomal abnormality occurs when a child inherits
too many or two few chromosomes. The most common
cause of chromosomal abnormalities is the age of the
mother and some chromosomal conditions are caused by
changes in the number of chromosomes. These changes are
not inherited, but occur as random events during the
formation of reproductive cells (eggs and sperm). An error in
cell division called nondisjunction results in reproductive
cells with an abnormal number of chromosomes.
 Changes in chromosome structure can also cause
chromosomal disorders. Some changes in chromosome
structure can be inherited, while others occur as random
accidents during the formation of reproductive cells or in
early fetal development. Because the inheritance of these
changes can be complex, people concerned about this type
of chromosomal abnormality may want to talk with a
genetics professional.
What is the main cause of Chromosomal
Abnormalities?
 Errors during dividing of sex cells (meiosis)
Errors during dividing of other cells (mitosis)
Exposure to substance that cause birth defects (teratogens).
Who is at high risk for Chromosomal
Abnormalities?
 A woman age 35 years or older is at higher risk having a
baby with a chromosomal abnormality. This is because
errors in meiosis may be more likely to happen as a result of
the aging process.
Genetic Abnormalities
What are genetic disorders?

Genetic abnormalities are conditions caused by changes

to the genes or chromosomes. Inherited disorders are
caused by gene mutations. These include disorders such
as cystic fibrosis, sickle cell disease, and Tay-Sachs
disease. Chromosomal abnormalities occur when there are
missing or extra chromosomes or pieces of chromosomes.
Down syndrome is an example of a genetic disorder
caused by a chromosome abnormality. Most chromosome
abnormalities are not inherited.
How do genetic abnormalities affect the health of the
mother and baby?

How a genetic disorder or chromosomal abnormality will

affect the health of the mother and the baby will
depend on the condition. Some genetic conditions may
not cause any symptoms, and others can cause severe,
life-limiting problems.
How do genetic disorders occur?

Genetic abnormalities occur when there is an

abnormality in one or more genes. Some genetic
disorders are passed down from parents to children
through their genes. Sometimes there are sporadic
changes in the DNA of a gene that cause the developing
baby to be affected without a prior family history.
Can genetic abnormalities be prevented?

Before you conceive, you should talk to your doctor about steps
you can take to help you have a healthy baby. Men and women
can avoid exposure to harmful substances, such as ionizing
radiation, alcohol, drugs, and certain chemicals. Preconception
genetic testing can help you determine whether you’re at
higher risk of having a baby with a hereditable genetic
condition.
If tests show you are at higher risk, you can use contraception
to avoid pregnancy, have a spontaneous conception and use
genetic testing during pregnancy to identify a affected baby,
consider assisted reproductive technologies with an egg or
sperm donor, or choose in vitro fertilization and test the
embryos for specific genetic disorders before implantation.

However, no matter what steps are taking, there is always a

possibility that genetic abnormalities may occur. Anytime there
is a pregnancy, there is at least a 3% risk for having a child with
some sort of birth defect, mental impairment or genetic
abnormality.
How do doctors test for genetic abnormalities?

Doctors can order genetic tests on the DNA from cells obtained
by blood, amniotic fluid, placental tissue, cells inside the cheek,
and other tissue. Different tests may use different sources of
DNA. The type of DNA sample used and the tests performed
depend upon the suspected abnormality. Once a DNA sample is
collected, lab technicians are able to analyze the cells to look for
changes in DNA, or in some cases, chromosomes.
In pregnancy, there are two main types of tests – screening and
diagnostic, that help determine whether a developing baby has a
genetic abnormality. Screening tests tell you the probability that
your baby has certain disorders. Diagnostic tests tell you
whether your baby actually has the disorder in question.
Diagnostic tests are done on fetal cells floating in the amniotic
fluid or cells from the placenta. The cells can be obtained
through amniocentesis or chorionic villus sampling (CVS).
What types of genetic abnormalities are doctors
looking for during the tests?
The genetic abnormalities looked for during testing depend upon things
such as risk factors, the parents’ genetic carrier status, and specific
disorders suggested by imaging tests. Some of the genetic abnormalities
that can be diagnosed through testing are:

• Chromosome abnormalities, like Down syndrome

• Cystic fibrosis
• Fragile X syndrome
• Spinal muscular atrophy
• Sickle cell disease, or other blood disorders
• Tay-Sachs disease, or other disorders common in the Ashkenazi Jewish
population
• Other disorders for which a couple has a family history
What happens if genetic abnormalities are detected?

If abnormalities are detected, the parents are offered

consultations to discuss the potential prognosis for their
baby. They will then have to decide whether to continue the
pregnancy (often without intervention or treatment until
after delivery), end the pregnancy, or place the baby for
adoption. If a birth defect is treatable before delivery,
doctors may be able to offer a referral to a center that
performs intrauterine surgical procedures. Often they
recommend waiting until after birth.
 Conditions that may be correctable prior to birth via
intrauterine surgery include:

• Myelomeningocele (MMC) / spina bifida

• Twin-twin transfusion syndrome (TTTS)
• Some malformations of the lung
• Specific heart defects.
• Not all patients with baby with the above problems are
candidates for intrauterine procedures.
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