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Abnormalitas Kromosom - 2020
Abnormalitas Kromosom - 2020
Abnormalitas Kromosom - 2020
Unexplained infertility
Multiple abortion (>2)
Prior case of defective baby
Presence of congenital anomalies
(mental retardation, multiple
congenital abnormalities,
dysmorphic features)
Chromosomal findings in early
miscarriages
60% abnormal:
Trisomy (47 chromosomes – one extra) 30%
Sex chromosomes
Turner syndrome 45,X
Klinefelter syndrome 47,XXY
All chromosomes
Triploidy (69 chromosomes)
Chromosome Number Abnormality
Aneuploidy (48, XXXX)
Chromosome Number Abnormality
Trisomy 21 (47, XX, +21)
Chromosome Structure
Abnormalities
Insertion Ring
chromosome
Single Chromosome Disorders
1.Deletion - portions
of the chromosome
are lost (genetic
material is missing);
2. Duplication - genetic
material is present
twice;
3. Inversion - parts of
the chromosome
are flipped (genetic
material is “flipped”)
Inversion may be classified into two types:
Pericentric - include the centromere
Paracentric - do not include the centromere
Inversions in natural populations
Insertion
• Genetic material is added from
another chromosome
2nd
nondisjunction mitotic
division
Karyotype =
47,XX+21 or
47,XY+21
Karyotype Trisomy 21:
Translocation Type
&
47,XY,+21/46,XY (40%)
Risk correlate with maternal age
• <25 y/o 1/1600 • 35 to 39 y/o 1/270
• 30 to 34 y/o 1/800 • > 40 y/o 1/80
DOWN SYNDROME
Clinical features
“Happy children”
Mental retardation (mean IQ< 50)
Developmental delay
Hypotonia
Signs of hypothyroidism
Cardiac – CHD: PDA, VSD, ASD,
Atrioventricular Septal Defect
Alzheimer-like dementia
Leukemia
Short lifespan
DOWN SYNDROME
Craniofacial dysmorphology
Microcephaly, brachycephaly
with relatively flat occiput
Flat facial profile
Short, up slanting palpebral fissures
Small nose with flat nasal bridge;
Brushfield, speckled spots of the iris
Inner epicanthal folds
• Small mandible, small mouth
with protruding tongue
• Small ears with abnormal shape
DOWN SYNDROME
crease simian
DOWN SYNDROME
PRINCIPAL FEATURES
IN NEONATE
Hypotonia 80%
Poor Moro reflex 85%
Hyperflexibiliry of joints 80%
Excess skin on back of neck 80%
Flat facial profile 90%
Upslanted palpebral fissures 80%
Abnormal auricles 60%
Dysplasia of pelvis 70%
Dysplasia of mid phalanx fifth finger (clinodactily) 60%
Simian crease 45%
Trisomy 18
Edwards syndrome
Incidence
1/8000
>90% dead in 1st
year
Trisomy 18
Classic type : Karyotype 47, XY,+18
Trisomy 18
Edwards syndrome
Weak cry
Hypoplasia of skeletal muscle,
subcutaneous and adipose tissue.
Severe Mental retardation and many
physical birth defects
CHD, VSD, PDA and horseshoe kidney,
omphalocele
Trisomy 18 chromosome
Edwards syndrome
Craniofacial
dysmorphism :
•Strawberry-shaped head
•Microcephaly
• Micrognathia (small
mandible)
Small face with prominent
occiput (strawberry-shaped
head)
Small sternum, small nipples
Edwards syndrome
• Overlap of second finger on third, fourth
finger on fifth
• Fixed finger contractures
Edwards syndrome
severe birth
defects
mental
retardation
Trisomy 13
Patau syndrome
Open scalp lesion, scalp defect
Cleft palate (may be bilateral)
Microcephaly
Microphthalmos,coloboma of the eyes
Malformed ears
Polydactily
Patau syndrome
variable defect in facial development
Microcephaly
Cleft palate
Polydactily of feet
Newborn boy with diagnosed
Patau syndrome (cleft lip and
palate, polydactyly of left hand,
atrial septal defect) Boy 5 yrs old with
Patau syndrome
(congenital deafness
and blindness)
SEX CHROMOSOMAL
ABNORMALITY
Turner syndrome
Affects
1 in 2500 newborn girls;
One X chromosome is either missing or
abnormal;
Types:
Classic monosomy (60 %); karyotype: 45, X
Structural abnormality (25 %) – the structure of one
of the X chromosomes is altered (deletion,duplication).
Mosaicism (15 %)
Karyotype Turner Syndrome :
Classic Type
Karyotype :45, X
Turner Syndrome
Short Female,
Broad Chest with Wide Space of Nipples,
Congenital Lymph edema
Dysmorphic features
shield-shaped chest,
webbing of the neck, appearance of short neck
low posterior hairline,
Cubitus valgus (increased carrying angle, > 30 °)
Short stature (height adult – 135 cm)
Multiple pigmented nevi
lymphedema of hands and feet at birth,
Short stature
Tendency to become obese
Klinefelter syndrome
Hypogenitalism and Hypogonadism. Long
Legs, Dull Mentality, and/or Behaviorals