BACHELOR OF SCIENCE IN NURSING:

CARE OF MOTHER, CHILD AND

ADOLESCENT (Well Clients)
COURSE MODULE COURSE UNIT WEEK

1 2 2

Human Genetics

✓ Discuss the course and unit objectives

✓ Comprehend study guide prior to class attendance
✓ Read required learning resources; refer to unit terminologies for jargons
✓ Actively participate in classroom discussions
✓ Accomplish and submit assigned course unit tasks on time
✓ Participate in weekly discussion board (Canvas) Answer and submit course unit tasks

At the end of this unit, the students are expected to:

Cognitive:
1. Define the Theories Related to Procreation
2. Identify the Process of Human Reproduction
3. Determine the Risk Factors that can lead to Genetic Abnormalities
 Affective
1. Listen attentively during class discussions
2. Demonstrate tact and respect of other students opinions and ideas
3. Accept comments and reactions of classmates openly.
Psychomotor:
1. Participate actively during class discussions
2. Follow Class rule and Apply Netiquettes
3. Use critical thinking to identify areas of care that could benefit from additional research or
application of evidence-based practice.
4. Utilize the Nursing Process in the Prevention of Genetic Alteration and in the Care of Clients Seeking
Services Before and During Conception

Adele Pilliteri, JoAnne Silbert-Flagg. (2018). Maternal and Child Health Nursing: Care of the
Childbearing and Childrearing Family. (8 th Ed.).

Ricci, Susan Scott Essentials of Maternity, Newborn, and Women's Health Nursing (4th Ed.)

Genetics is the study of the ways such disorders occur. Genetic Disorders are disorders resulting
from a defect in the structure or number of genes or chromosomes.
I. Nature of Inheritance
Genes are the basic units of hereditary that determine both the physical and cognitive characteristics
of people. Composed of segments of DNA, they are woven into strands in the nucleus of all body
cells to form chromosomes.
A person’s phenotype refers to his or her outward appearance or the expression of the genes.
A person’s genotype refers to his or her actual gene composition.
A person’s genome is the complete set of genes present which is about 50,000-100,000.

II. Inheritance of the Disease

A. Autosomal Dominant Inheritance
With an autosomal dominant condition, either a person has
two unhealthy genes or is heterozygous, with the gene
causing the disease stronger than the corresponding healthy
recessive gene for the same trait.
Examples of autosomal dominant disorders are Huntington’s
disease, Facioscapulohumeral muscular dystrophy, a form
of Osteogenesis imperfecta and Marfan syndrome
In assessing family genograms for the incidence of inherited
disorders, a number of common findings are usually
discovered when a dominantly inherited pattern is present in
the family:
1. One of the parents of a child with the disorder also will
have the disorder (a vertical
 transmission picture)
2. The sex of the affected individual is unimportant in terms of inheritance
3. There is usually a history of the disorder in other family members
B. Autosomal Recessive Inheritance
More than 1,500 autosomal recessive disorders have been
identified. In contrast, to structural disorders, these tend to be
biochemical or enzymatic.
Examples include cystic fibrosis, adrenogenital syndrome,
albinism, Tay-Sachs disease, galactosemia, phenylketonuria,
limb-girdle muscular dystrophy and Rh-factor incompatibility
When family genograms are assessed for the incidence of inherited
disease, situations commonly discovered when a recessively
inherited disease is present in the family include the following:
1. Both parents of a child with the disorder are clinically free of
the disorder
2. The sex of the affected individual is unimportant in terms of inheritance
3. The family history for the disorder is negative – that is no one can identify anyone else who
had it (a horizontal transmission pattern)
4. A known common ancestor between the parents sometimes exists. This explains how both
male and female came to possess a like gene for the disorder.
C. X-Linked Dominant Inheritance
There are about 300 known X-linked disorders. If the gene is
dominant, only ne X chromosome with the trait need be present
for symptoms of the disorder to be manifested.
Family characteristics seen with this type of inheritance include
the following:
1. All individuals with the gene are affected
2. All female children of affected men are affected; all male
children of affected men are unaffected
3. It appears in every generation
4. All children of homozygous affected women are affected.
50% of the children of heterozygous affected women are
affected.
D. X-Linked Recessive Inheritance
The majority of X-linked inherited disorders are recessive,
and inheritance of the gene from both parents is incompatible
with life.
Examples are Hemophilia A, color blindness, Duchenne
muscular dystrophy and fragile X syndrome
When family genograms are assessed for inherited disorders,
the following findings usually are apparent if an X-linked
recessive inheritance disorder is present in the family:
1. Only males in the family will have the disorder
2. A history of girls dying at birth for unknown reasons often
exists (females who had the affected gene on both X
chromosomes
3. Sons of an affected man are unaffected
 4. The parents of affected children do not have the disorder
E. Y-Linked Inheritance
Although genes responsible for features such as height and tooth size are found on the Y
chromosome, no known disease genes are inherited by Y-chromosome transmission.
Common Chromosomal Disorders Resulting In Physical Or Cognitive Developmental Disorders
1. Trisomy 13 Syndrome - also called Patau syndrome, is a chromosomal condition associated with
severe intellectual disability and physical abnormalities in many parts of the body.
2. Trisomy 18 Syndrome - also called Edwards syndrome, is a chromosomal condition associated
with abnormalities in many parts of the body. Individuals with trisomy 18 often have slow growth
before birth (intrauterine growth retardation) and a low birth weight.
3. Cri-du-Chat Syndrome- also known as 5p- syndrome and cat cry syndrome - is a rare genetic
condition that is caused by the deletion (a missing piece) of genetic material on the small arm (the
p arm) of chromosome 5.
4. Turner Syndrome - is a chromosomal condition related to the X chromosome that alters
development in females, though it is not usually inherited in families.
5. Klinefeiter Syndrome - also known as the XXY condition, is a term used to describe males who
have an extra X chromosome in most of their cells.
6. Fragile X Syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual
disability.
7. Down Syndrome- (sometimes referred to as "Down's syndrome") or trisomy 21 is a common
genetic disorder that occurs when a person has three copies of chromosome 21.

EBSCO HOST http://search.ebscohost.com Usersname: OLFU PW: #fatima2020

http://dbctle.erau.edu/initiatives/seven/ Iowa State Center for Excellence in Learning and Teaching.

Genetic disorders - can be caused by a mutation in one gene (monogenic disorder), by mutations in
multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and
environmental factors, or by damage to chromosomes (changes in the number or structure of
entire chromosomes, the structures that carry genes).

Answer the following questions to assess your understanding about the topic human genetics:

1. Suppose Amy’s husband’s sister and her husband both carry a gene for a recessively inherited
disorder, yet they have had five children and none of the children shows symptoms of the disorder. Is it
possible for them to have had five children without any symptoms of the disease? What are the
chances that their sixth child will also be disease free?
2. What are the roles of nurses in genetic counseling?
Textbook:

Pilliteri, Silbert-Flagg. (2018). Maternal and Child Health Nursing: Care of the Childbearing and
Childrearing Family. (8 th Ed.) Wolters Kluwer

Devakumar (2019). Oxford Textbook of Global Health of Women, Newborns, Children, and Adolescents.
PB Publishing.

Murray (2019). Foundations of Maternal-Newborn and Women’s Health Nursing, 7th edition. Elsevier.

Flagg (2018). Maternal and Child Health Nursing: Care of the Childbearing and Chilrearing Family.
Wolters Kluwer

Wolters Kluwer. Audrey Berman, Shirlee J. Snyder, Geralyn Frandsen. (n.d.). Fundamentals of Nursing
by Kozier and Erbs (10th ed.).

Pearson. Maternal and Child Health. (n.d.). https://apha.org/topics-and-issues/maternal-and-child-health

Maternal, newborn and adolescent health. (n.d.). https://www.who.int/maternal_child_adolescent/en/

Rosalinda Parado Salustiano. (2009). Dr. RPS Maternal & Newborn Care: A Comprehensive Review
Guide and Source Book for Teaching and Learning. C & E Publishing, Inc.