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Chromosomal Anomalies (Lecture 2)
Dr. Archana Rani
Associate Professor
Department of Anatomy
KGMU UP, Lucknow
30.10.2014
Trisomy of Sex Chromosomes
• Klinefelter syndrome
• Triple X syndrome
• Double Ysyndrome
Klinefelter Syndrome
• Chromosome complement: 47,XXY
• Phenotype: Male
• Incidence: 1:1000
Features of Klinefelter Syndrome
• Tall stature; thin build; long lower limbs
• Testicular atrophy• Female pattern of pubic
hair• High pitched voice• Infertility
(aspermatogenesis)
• Gynaecomastia• Low level of intelligence• Serum testosterone
levels low to normal• FSH and LH levels very
high• Sex chromatin positive
Klinefelter syndrome: Karyotype
Klinefelter Syndrome
Triple X Syndrome (Superfemale)
• Chromosome complement: 47,XXX
• Phenotype: Female
• Incidence: 1:1000
Features of Triple X Syndrome
• Normal in appearance• Difficulty in speech, learning
and emotional responses• Mild mental retardation in
15-25% cases• Two sex chromatin Barr
bodies• Infertility
• Wide-set eyes • Amenorrhoea• Expressionless face• Enamel hypoplasia• Deficient language
skills • Delayed development
of motor skills
Superfemale: Karyotype
Superfemale
Double Y Syndrome
• Chromosome complement: 47,XYY
• Phenotype: Male
• Incidence: 1:1000
Features of Double Y Syndrome
• Normal in appearance
• Tall stature
• Aggressive behaviour
• Problems in motor and language development
Monosomies of Chromosomes
• Presence of only one member of a chromosome pair
in a karyotype
• More detrimental than equivalent trisomy
• Can involve autosomes or sex chromosomes
• Usually abort spontaneously
• Monosomy of X chromosome results in XO condition
called Turner syndrome
Turner Syndrome
• Chromosome complement: 45,XO
• Phenotype: Female
• Incidence: 1:5000-8000
Features of Turner Syndrome
• Short statured female
• Sexual infantilism with primary amenorrhoea and sterility
• Short, webbed neck
• Prominent ears with defective hearing
• Small mandible
• Defective vision
Features of Turner Syndrome
• Epicanthal folds• Low posterior hair line• Cubitus valgus • Broad chest with widely
spaced nipples• Cardiovascular anomalies• Hyperconvex finger nails• Pigmented nevi• Sex chromatin negative
Turner Syndrome: Karyotype
Turner Syndrome
Structural Chromosomal Abnormalities
• Results from chromosome breakage
• Followed by reconstitution in an abnormal combination
• Breaks in any chromosome may be induced by various factors
Structural Chromosomal Abnormalities
• Deletion (Deficiency)
• Inversion
• Translocation
• Isochromosome
• Ring Chromosome
Deletion
• Loss of a (generally small) segment of chromosome
A B C D E F G A B D E F G
C
Deletion
• Arise through spontaneous breakage– some
chromosomes have fragile spots
– radiation, UV, chemicals, viruses may increase breakage
Deletion
• May arise through unequal crossing over A B C D E F G
A B C D E F G
x
A B C D E F F G A B C D E G
Deletion Duplication
Deletions in Humans
• Cri-du-chat syndrome– Micro deletion of chromosome 5
• Di-George syndrome– Micro deletion of chromosome 22
• Schizophrenia & Obsessive Compulsive Disorder– Micro deletion of chromosome 22 associated
• Angelman syndrome– Micro deletion of chromosome 15
• Prader-Willi syndrome– Micro deletion of chromosome 15
Cri-du-chat syndrome
• 1st autosomal deletion described • Characteristic cat-like cry, which disappears with age • Microcephaly • Severe mental retardation• Congenital heart disease• Hypertelorism (widely separated eyes)• Low birth weight and poor growth• Severe cognitive, speech, and motor delay• Behavioral problems • Excessive drooling
Cri-du-chat syndrome
Prader-Willi and Angelman Syndromes
Prader-Willi Syndrome
• Lack of muscle tone in newborn
• Poor swallowing reflex• As adult - gross obesity• Mean I.Q. ~ 50• Microdeletion of 15
Angelman Syndrome• Developmentally
delayed• Jerky movements• Stiff, fixed smile• Uncontrolled laughter• Abnormal E.E.G.,
epilepsy• Microdeletion of 15
Inversion
• 180o reversal of chromosome segment
A B C D E F G H I J K
A B C H G F E D I J K
180O
Inversion
• Produced through breakage and reassociation of chromosome
A B
C
D
E
F G
Inversion
• Produced through breakage and reassociation of chromosome
A B
C
D
E
F G
Types of Inversion
Paracentric Pericentric
Translocation
• Exchange of segments between non-homologous chromosomes F
A
B
C
DE
L M NO
P
Q
Translocation
A B C
D E F
O N M L
Q P
Isochromosome
• Centromere of the
chromosome divides
transversely instead
of longitudinally
• One arm is missing
and the other arm
duplicated
Ring Chromosome
• Occurs due to loss of
both the ends of a
chromosome
• The broken ends rejoin
to form a ring-like
chromosome
• Rare anomaly
Robertsonian Changes
• Fusiontwo chromosomes join to form one
• Fission
one chromosome splits to form two
REFERENCES
1. Essentials of Anatomy for Dentistry
Students,1st Edition.
2. Langman’s Medical Embryology,11th Edition.
3. Human Embryology, 5th Edition.
MCQs
1. Klinefelter syndrome is associated with
chromosome complement:
a) 47,XXX
b) 47,XXY
c) 47,XYY
d) 47,YYY
MCQs
2. Testicular atrophy is associated with:
a) Triple X syndrome
b) Double Y syndrome
c) Turner syndrome
d) Klinefelter syndrome
MCQs
3. Sex chromatin negative is a characteristic feature of:
a) Triple X syndrome
b) Down syndrome
c) Turner syndrome
d) Klinefelter syndrome
MCQs
4. All of the following are trisomy of sex
chromosomes except:
a) Turner syndrome
b) Klinefelter syndrome
c) Triple X syndrome
d) Double Y syndrome
MCQs
5. Partial deletion of short arm of chromosome
5 is a feature of:
a) Angelman syndrome
b) Prader -Willi syndrome
c) Cri-du-chat syndrome
d) All of the above