COMMON

CHROMOSOMAL
DISORDERS
RESULTING IN
PHYSICAL OR
COGNITIVE
DEVELOPMENT
DISORDERS
Trisomy 13 Syndrome
(47XY13+ or 47XX13+)
• Also known as 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 1000 live births.
• Midline body disorders such as cleft lip and
palate, heart defects, particularly ventricular
septal defects, and abnormal genitalia are
present
• Other common findings include microcephaly
with abnormalities oft he forebrain and
forehead; eyes that are smaller than normal
(microphthalmos) or absent; and low-set ears.
• Most of these children do not survive beyond
early childhood.
PATAU
SYNDROME
 • Children with • The incidence is
trisomy 18 approximately 0.23
syndrome have per1000 live births.
three copies of
chromosome • As in trisomy
18. 13 syndrome,
• These children are most of these
children do
severely
cognitively
Trisomy 18 Syndrome
not survive
challenged and
tend to be small
(47XY18+or 47XX18+) beyond early
for gestational age infancy.
at birth, have EDWARD’S SYNDROME
markedly low-set
ears, a small jaw,
congenital heart
defects, and usually
• Also, the soles of
misshapen fingers theirfeet are often
and toes (the index rounded instead of flat
finger deviates or
crosses over other (rocker-bottom feet).
fingers).
 Cri-du-Chat Syndrome (46XX5p- or 46XY5P-)
Cri-du-chat syndrome is the result of a missing portion of
chromosome 5

an abnormal cry, which sounds They are severely

much more like the sound of a children with cri-du-chat
cat than a human infant’s cry, syndrome tend to have a
cognitively
small head, wide-set eyes, challenged
and a downward slant to the
palpebral fissure of the eye.
 • The child is short in
stature and has only

TURNER’S 45XO streak (small and non

functional) ovaries. She
is sterile and with the
SYNDROME exception of pubic hair,
secondary sex
GONADAL DYSGENESIS
characteristics do not
develop at puberty.
• The hairline at the nape
of the neck is low set,
and the neck may
• The incidence of the appear to be webbed
syndrome is and short.
approximately 1 per • A newborn may have
10,000 live births. appreciable edema of
the hands and feet and
• The disorder can be
a number of congenital
identified with an anomalies, most
ultrasound during frequently coarctation
pregnancy because of (stricture) of the aorta
the increased neck and kidney disorders.
folds.
• Although children with Turner syndrome may be severely cognitively challenged,
difficulty in this area is more commonly limited to learning disabilities.
• Socio-emotional adjustment problems may accompany the syndrome because of the
lack of fertility and if the nuchal folds are prominent.
• Human growth hormone administration may help children with
Turner syndrome achieve additional height(Baxter et al., 2009).
• If treatment with estrogen is begun at approximately
13 years of age, secondary sex characteristics will
appear, and osteoporosis from lack of estrogen during
growing years may be prevented.
• If females continue taking estrogen
for three out of every four weeks, this
produces withdrawal bleeding that
results in a menstrual flow.
• This flow, however, does not correct
the problem of sterility.
• Gonadal tissue is scant and
inadequate for ovulation because of
the basic chromosomal aberrations
 KLINEFELTER’S SYNDROME
47XXY
Infants with Klinefelter syndrome are males with
an extra X chromosome.
Characteristics of the syndrome may not be
noticeable at birth.
At puberty, secondary sex characteristics do not
develop; the child has small testes that produce
ineffective sperm (Porche, 2007).
Affected individuals tend to develop gynecomastia
(increased breast size) and have an increased risk of
male breast cancer (Pyeritz, 2009).
The incidence is about1 per 1000 live births.
Karyotyping can be used to reveal the additional X
chromosome.
FRAGILE X SYNDROME  Fragile X syndrome is the most
common cause of cognitive challenge
(46XY23q-) in males.
 It is an X-linked disorder in which one
Before puberty, long arm of an X chromosome is
boys with fragile defective which results in inadequate
X syndrome protein synaptic responses (Bear et
typically may al., 2008).
 The incidence is about 1 in 1000 live
demonstrate births • They may have reduced
maladaptive intellectual functioning, with
behaviors such as marked deficits in speech and
arithmetic (Kornman etal., 2007).
hyperactivity and • They may be identified by the
presence of a large head, a long
autism. face with a high forehead, a
prominent lower jaw, and large
After puberty, enlarged protruding ears.
testicles may become • Hyperextensive joints and
evident. disorders may also be present.
• Affected individuals are fertile and
Although intellectual function from the syndrome cannot be can reproduce.
improved, both folic acid and an antipsychotic drug such as • Carrier females may show some
phenothiazines may improve symptoms of poor concentration and evidence of the physical and
cognitive characteristics.
impulsivity
 Down Syndrome (Trisomy 21) (47XY21+or 47XX21+)
Children with Down syndrome are usually cognitively challenged
to some degree. The challenge can range from an intelligence
quotient (IQ) of 50 to 70 to a child who is profoundly affected (IQ
less than 20). The extent of the cognitive challenge is not evident
at birth. The fact that the brain is not developing well is
evidenced by a head size that is usually smaller than the 10th or
20th percentile at well-child health care visits.
The physical features of children with The fingers of many children with Down syndrome
Down syndrome are so marked that fetal are short and thick, and the little finger is often
curved inward. There may be a wide space between
diagnosis is possible by ultrasound in
the first and second toes and between the first and
utero. second finger

The eyelids have an extra fold of tissue at The palm of the hand shows a peculiar crease
the inner canthus (an epicanthal fold), and (asimian line), which is a single horizontal
the palpebral fissure (opening between the palm crease rather than the usual three
eyelids) tends to slant laterally upward. creases in the palm.
.

The nose is broad and flat. Muscle tone is poor, giving the baby a
The iris of the eye may have white rag-doll appearance.
specks, called Brushfield spots. The ears may be low-set.

The back of the head is flat, the neck is

short, and an extra pad of fat at the base The tongue may protrude from
. of the head causes the skin to be so loose the mouth because the oral
it can be lifted easily. cavity is smaller than usual.
KEY POINTS Genetic disorders are disorders resulting from a defect in the structure or number of genes or
01 chromosomes. Genetics is the study of how and why such disorders occur..
A phenotype is a person’s outward appearance. Genotype refers to the actual gene
02 composition. A person’s genome is the complete set of genes present. A karyotype is a graphic
representation of the chromosomes that are present..

A person is homozygous if he or she has two like genes for a trait and heterozygous if
03 he or she has two unlike gene for a trait..
04 or dominant diseases in children.
Mendelian laws can predict the likely incidence of recessive
04 Division disorders, including nondisjunction abnormalities, deletion, translocation, and mosaicism,
also create genetic disorders.

Genetic counseling can be a role for nurses with advanced preparation and education. Assessment of
05 genetic disorders consists of a health history, physical examination, and diagnostic studies such as
chorionic villi sampling, amniocentesis, and maternal serum levels of alpha-fetoprotein analysis.
Some karyotyping tests, such as chorionic villi sampling and amniocentesis, introduce a risk of spontaneous or threatened
miscarriage. Be certain that women undergoing these tests remain in the health care facility for at least30 minutes after the
06 procedure to be sure that a complication such as vaginal bleeding, uterine cramping, or abnormal fetal heart rate is not present.
Women with an Rh-negative blood type need Rh immune globulin ad-ministration after these procedures.
An important aspect of genetic counseling is respecting a couple’s right to privacy. Be certain
07
that information gained from testing remains confidential and is not given indiscriminately to
others, including other family members.
People who are told that a genetic abnormality does exist in their family may suffer a loss of self-
08 06 with the feelings they experience is an important
esteem. Offering support to help them deal
nursing intervention.
Common nondisjunction genetic disorders include Down syndrome (trisomy 21), trisomy 13,
09 trisomy 18,Turner syndrome, and Klinefelter syndrome. Most of these syndromes include some
degree of cognitive challenge.