Genetic Disorders

Badil Das
Associate Professor
Ph.D. Nursing Scholar
By end of this presentation, the learners will be able to
Define Down’s syndrome
Understand pathophysiology of Down’s syndrome
List sign and symptoms of Down’s syndrome
Define Turner’s Syndrome
Describe the pathophysiology of Turner’s Syndrome
Identify the clinical features
Define Klinefelter’s Syndrome
Describe the pathophysiology of Klinefelter’s Syndrome
Identify the clinical features of Klinefelter’s Syndrome
Down’s syndrome
Down syndrome also called Trisomy 21.
Condition in which extra genetic material causes delays
in the way a child develops, both mentally and
physically.
Down syndrome is a chromosomal disorder due to extra
copy of 21st chromosome.
A child gets an extra chromosome 21- for a total of 47
chromosomes instead of 46.
It's this extra genetic material that causes the physical
features and developmental delays.
First described by John Langdon Down in 1866.
It is most common cause of mental retardation.
Approximately 95% of cases of Dow’s Syndrome are
caused by nondisjunction or error in cell division
during meiosis, resulting in trisomy of 21.
 It is caused in mother age 20, or more than 45 years
old.
Sign and Symptoms
• Small pinky finger that points inward towards the thumb.

• One crease in the palm of their hand (palmar crease).
• Being more prone to infections or illnesses.
• Vision problems or eye diseases.
• Slanted eyes that point upward.
• Ear Infections and hearing loss
• Shorter-than-average height.
• Small ears, hands and feet.
• Obstructive sleep apnea.
Congenital heart disease (ASD, VSD).
Mental Retardation (IQ- 25-50).
Increased risk of leukemia.
Short Structure.
Protrusion of tongue.
Dental problems.
A flat nose bridge.
• A short neck.
• Dystonia.
• Walk and move (gross and fine motor skills).
• Speak (language development skills).
• Learn (cognitive skills).
• Play (social and emotional skills).
As a result, it may take your child longer to do the
following things:
 Toilet training.
 Speaking their first words.
 Taking their first steps.
 Eating food independently.
Investigations
Amniocentesis
Chorionic villus sampling
• Percutaneous umbilical blood sampling (PUBS).
• Abnormal levels of PAPP-A and HCG may indicate
a problem with the baby (First trimester)
Turner’s Syndrome
Monosomy X
Phenotypic female
45, X/0
The disorder affects approximately 1 of every 2500 live
births
It has been estimated that more than 99% of fetuses are
spontaneously aborted in the first trimester.
Most consistent being short stature and ovarian
dysgenesis.
Conti….
There also may be abnormalities in kidney
development (i.e., abnormal location, abnormal
vascular supply, or double collecting system),
Changes in nail growth
High-arched palate
Short fourth metacarpal
Strabismus (both eyes do not line up in the same
direction)
Clinical features
Short in stature, but her body proportions are normal
She does not menstruate and shows no signs of
secondary sex characteristics
Variations in the syndrome range from essentially
none to webbing of the neck with redundant skin folds
and low hairline.
Nonpitting lymphedema of the hands and feet,
Congenital heart defects particularly coarctation of
the aorta (narrowing of the aorta)
Conti..
Women with Turner’s disease have increased
morbidity due to cardiovascular disease and
gastrointestinal, renal, and other endocrine disorders.
 Adults with Turner’s syndrome continue to have
reduced bone mass, and this has been associated with
increased risk for fractures.
Treatment
Growth hormone therapy
Estrogen therapy
Klinefelter’s Syndrome
Klinefelter’s syndrome is a condition of testicular
dysgenesis accompanied by the presence of one or
more extra X chromosomes in excess of the normal
male XY complement.
Most males with Klinefelter’s syndrome have one
extra X chromosome (47,XXY).
 In rare cases, there may be more than one extra X
chromosome (48,XXXY).
Cont….
The presence of the extra X chromosome in the
47,XXY male results from nondisjunction during
meiotic division in one of the parents.
The cause of the nondisjunction is unknown.
 Advanced maternal age increases the risk, but only
slightly.
Cont…
Klinefelter’s syndrome is characterized by

Enlarged breasts
Sparse facial and body hair
Small testes, and the inability to produce sperm.
Male phenotype is retained.
The condition often goes undetected at birth. The
infant usually has normal male genitalia, with a small
penis
Small, firm testicles
Cont…
At puberty, the intrinsically abnormal testes do not

respond to stimulation from the gonadotropins and
undergo degeneration
There may be deficient secondary male sex
characteristics
There may be sexual dysfunction
Complete infertility that occurs owing to the inability to
produce sperm.
Cont…
Regular administration of testosterone, beginning at

puberty, can promote more normal growth and
development of secondary sexual characteristics.
Although the intellect usually is normal, most
47,XXY males have some degree of language
impairment
They often learn to talk later than do other children
and often have trouble with learning to read and write.

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Badil Das

• Small pinky finger that points inward towards the thumb.

Klinefelter’s syndrome is characterized by

At puberty, the intrinsically abnormal testes do not

Regular administration of testosterone, beginning at

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