Summary

 Genetic disorders are those resulting from a distortion in the structure or number
of genes or chromosomes. Genetics, the study of gene variation, includes
examining how and why such disorders occur.
 A phenotype is a person’s outward appearance. Genotype refers to the actual
gene composition. A person’s genome is the complete set of genes present. A
karyotype is a graphic representation of the chromosomes present.
 A person is homozygous for a trait if he or she has two like genes for the trait. A
person is heterozygous if he or she has two unlike genes for the trait.
 Mendelian laws predict the likely incidence of recessive or dominant diseases.
 Genetic counseling can be a role for nurses with advanced preparation and
education. An assessment of genetic disorders consists of a health history,
physical examination, and screening and diagnostic studies such as first trimester
screening, cfDNA testing, CVS, and amniocentesis.
 Some karyotyping tests, such as CVS and amniocentesis, introduce a risk of
spontaneous or threatened miscarriage. Be certain women undergoing these
tests remain in the healthcare facility for at least 30 minutes after these
procedures to be certain vaginal bleeding, uterine cramping, or abnormal fetal
heart rate is not present. Women with an Rh-negative blood type need Rh
immune globulin administration after these procedures.
 An important aspect of genetic counseling is respecting a couple’s right to
privacy. Be certain information gained from testing remains confidential and is
not given indiscriminately to others, including other family members.
 Common genetic disorders include Down syndrome (trisomy 21), trisomy 13,
trisomy 18, Turner syndrome (45XO), and Klinefelter syndrome (47XXY). Most of
these syndromes include some degree of cognitive challenge.
 People who are told a genetic disorder does exist in their family may suffer a loss
of self-esteem. Offering support to help them deal with the feelings they
experience helps in planning nursing care that not only meets QSEN
competencies but also best meets the family’s total needs.
Key words:

Alleles - one of two or more alternative forms of a gene that arise by mutation and are
found at the same place on a chromosome.

Chromosomes- a threadlike structure of nucleic acids and protein found in the nucleus
of most living cells, carrying genetic information in the form of genes.

Cytogenetics- is the study of chromosomes by light microscopy and the method by

which chromosomal aberrations are identified

Dermatoglyphics-

Genes- are the basic units of heredity 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. In humans, each cell, with the
exception of the sperm and ovum, contains 46 chromosomes (44 autosomes and 2 sex
chromosomes). Spermatozoa and ova each carry only half of the chromosome number
(23 chromosomes). For each chromosome in a sperm cell, there is a like chromosome of
similar size, shape, and function in the ovum. Because genes are always located at fixed
positions on chromosomes, there are two like genes (alleles) on autosomes for every
trait in the ovum and sperm. The one chromosome that does not have a mirror match is
the chromosome for determining sex. If in the zygote formed from the union of a sperm
and ovum, the sex chromosomes are both type X (large symmetric), the individual is
genetically female. If one sex chromosome is an X and one a Y (a smaller type), the
individual is genetically male

Genetics-

Genetic Disorders - Inherited or genetic disorders are disorders that can be passed from
one generation to the next because they result from some disorder in the gene or
chromosome structure. Genetic disorders occur in some ethnic groups more than others
because people tend to marry within their own cultural group. In addition, concern is
increasing that some genetic disorders may occur due to occupational hazards, such as
toxic substances in the environment of workplaces. [The blood disorder β-thalassemia,
for example, occurs most frequently in families of Greek or Mediterranean heritage,
whereas αthalassemia occurs most often in persons from the Philippines or Southeast
Asia. Sickle-cell anemia occurs most often in people with an African ancestry. Tay-Sachs
disease, a deterioration of muscle and mental facilities, occurs most often in people of
eastern Jewish ancestry.] Genetic disorders occur at the moment an ovum and sperm
fuse or even earlier, in the meiotic division phase of the ovum or sperm when the
chromosome count is halved from 46 to 23.

Genome- the complete set of genes present (about 50,000 to 100,000). A normal
genome is abbreviated as 46XX or 46XY (the designation of the total number of
chromosomes plus a graphic description of the sex chromosomes present). If a
chromosomal aberration exists, it is listed after the sex chromosome pattern. In such
abbreviations, the letter p stands for short arm disorders and q stands for long arm
disorders. For example, the abbreviation 46XX5p—is the abbreviation for a female with
46 total chromosomes but with the short arm of chromosome 5 missing (cri-du-chat
syndrome). In Down syndrome, the person has an extra chromosome 21, so this is
abbreviated as 47XX21+ or 47XY21+(

Genotype- refers to his or her actual gene composition

Heterozygous- the genes differ (a healthy gene from the mother and an unhealthy gene
from the father, or vice versa)

Homozygous- A person who has two like genes for a trait (one from the mother and
one from the father)

Karyotype- a graphic representation of the chromosomes present

Phenotype- refers to his or her outward appearance or the expression of genes.

Keeping information secure is assured by the Genetic Information Nondiscrimination

Act of 2008, which bars employers from using individuals’ genetic information when
making hiring, firing, job placement, or promotion decisions (Soo-Jin Lee & Borgelt,
2014). The act also prohibits group health plans and health insurers from denying
coverage to a healthy individual or charging that person higher premiums based solely
on a genetic predisposition to developing a disease in the future.

The ideal time for discussing whether the possibility of a genetic disorder exists is before a first
pregnancy at a preconception health visit.

MENDELIAN INHERITANCE: DOMINANT AND RECESSIVE PATTERNS

The principles of genetic inheritance of disease are the same as those that govern
genetic inheritance of other physical characteristics, such as eye or hair color. These
principles were discovered and described by Gregor Mendel, an Austrian naturalist, in
the 1800s and are known as Mendelian laws. A person who has two like genes for a trait
—two healthy genes, for example (one from the mother and one from the father)—is
said to be homozygous for that trait. If the genes differ (a healthy gene from the mother
and an unhealthy gene from the father, or vice versa), the person is said to be
heterozygous for that trait. Many genes are dominant in their action over others. When
dominant genes are paired with nondominant (recessive) ones, the dominant genes are
always expressed in preference to the recessive genes (a gene for brown eyes, for
example, is dominant over one for blue eyes; a child born with a gene for brown eyes
and a recessive one for blue eyes will have brown eyes). An individual with two
homozygous genes for a dominant trait is said to be homozygous dominant; an
individual with two genes for a recessive trait is said to be homozygous recessive

GENETIC SCREENING

Q. Amy Alvarez is anxious to have her fetus’s health confirmed. She asks you, “Why do I have to wait so
late in pregnancy for genetic studies by amniocentesis?”

A. A genetic analysis is done on skin cells obtained from amniotic fluid. The test cannot be scheduled
until enough amniotic fluid is present for analysis, which is about the 15th week of pregnancy.
Fortunately, it is possible to do an analysis of fetal red cells circulating in maternal blood very early (at
about 10 weeks) in pregnancy.

Q. Why do laboratories take so long to return karyotyping results?

A. Karyotyping has traditionally (and by necessity) been done on cells at the metaphase (center phase)
of division, so the laboratory had to delay testing until the cells had grown to reach this phase. New
techniques now allow an analysis to be done immediately so results are available much sooner.

Q. If there are no inherited diseases in a couple’s family, should the couple have a karyotype done “just
to be sure” before they have their first baby?

A. A genetic analysis is not routinely recommended unless there is evidence or suspicion of genetic
disease in the family. Remember, karyotyping reveals only diseases present on chromosomes. A
“perfect” karyotype, therefore, doesn’t guarantee a newborn will not be ill in a noninherited way.

Couples who are most apt to benefit from a referral for genetic testing or counseling include:

• A couple who has a child with a congenital disorder or an inborn error of metabolism.
• A couple whose close relatives have a child with a genetic disorder such as a chromosomal disorder or
an inborn error of metabolism.

• Any individual who is a known carrier of a chromosomal disorder.

• Any individual who has an inborn error of metabolism or chromosomal disorder.

• A consanguineous (closely related) couple.

• Any woman older than 35 years of age and any man older than 55 years of age.

• Couples of ethnic backgrounds in which specific illnesses are known to occur.

TRISOMY 13 SYNDROME (47XY13+ OR 47XX13+) In trisomy 13 syndrome (Patau syndrome), the child has
an extra chromosome 13 and is severely cognitively challenged. The incidence of the syndrome is low,
approximately 0.45 per 1,000 live births. Midline body disorders such as cleft lip and palate, heart
disorders (particularly ventricular septal defects), and abnormal genitalia are present. Other common
findings include microcephaly with disorders of the forebrain and forehead, eyes that are smaller than
usual (microphthalmos) or absent, and low-set ears. Most of these children do not survive beyond early
childhood

TRISOMY 18 SYNDROME (47XY18+ OR 47XX18+)

Children with trisomy 18 syndrome (Edwards syndrome) have three copies of chromosome 18. The
incidence is approximately 0.23 per 1,000 live births. These children are severely cognitively challenged
and tend to be small for gestational age, have markedly low-set ears, a small jaw, congenital heart
defects, and usually misshapen fingers and toes (the index finger deviates or crosses over other fingers).
Also, the soles of their feet are often rounded instead of flat (rocker-bottom feet). As in trisomy 13
syndrome, most of these children do not survive beyond infancy (Karaman, Aydin, & Göksu, 2015).

CRI-DU-CHAT SYNDROME (46XX5P− OR 46XY5P−)

Cri-du-chat syndrome is the result of a missing portion of chromosome 5. In addition to an abnormal cry,
which sounds much more like the sound of a cat than a human infant’s cry, children with cri-du-chat
syndrome tend to have a small head, wide-set eyes, a downward slant to the palpebral fissure of the
eye, and a recessed mandible. They are severely cognitively challenged (Levy & Marion, 2015).

TURNER SYNDROME (45X0)

The child with Turner syndrome (gonadal dysgenesis) has only one functional X chromosome. The child
is short in stature and has only streak (small and nonfunctional) ovaries. She is sterile and, with the
exception of pubic hair, secondary sex characteristics do not develop at puberty. The hairline at the
nape of the neck is low set, and the neck may appear to be webbed and short (Fig. 8.7). A newborn may
have appreciable edema of the hands and feet and a number of congenital anomalies, most frequently
coarctation (stricture) of the aorta as well as kidney disorders. The incidence of the syndrome is
approximately 1 per 10,000 live births. The disorder can be identified on a sonogram during pregnancy
(a nuchal translucency scan) because of the extra skin at the sides of the neck (Levy & Marion, 2015).