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Chromosome DELETION DUPLICATION INVERSION TRANSLOCATION OTHERS

number

1pq26 deletion
- small head, a large
fontanel (soft spot), deep-
Chromosome
set eyes, short eye
1 openings, a flat nose with
broad nasal tip, a
prominent forehead, low
set ears, ear asymmetry, a
small mouth and small
pointed chin
FIBRODYSLAPI
MOWAT WILSON SA OSSIFISIAN
SYNDROME PROSSESIVA
Chromosome
2 - Malforma
- group of birth defects
- Microcephaly tion of
- Broad nasal bridge with a toes and
rounded nasal tip thumbs
- Large flaring eyebrows - Upper
- Uplifted earlobes with cervical
dimple in the middle vertebrae
- Affecting The ZEB2

Chromosome WOLF HIRSCHORN


4 - Greek warrior helmet
- Dental problems
- Abnormalities of the eyes,
heart , brain
- eyes are widely spaced and
may be protruding
- short philtrum, a
downturned mouth,
micrognathia, poorly
formed ears with small
holes, flaps of skin
- Deletion Of Genetic
Material Near The End Of
The Short (P) Arm
- WHSC1, LETM1, And MSX1
Are The Genes That Are
Deleted

JACOBSEN SYNDROME -
- Small-low ears , wide eyes SICKLE CELL
droopy eyelids - Anemia- low
Chromosome - Skinfolds covering inner blood
11 corner of eyes - Jaundice -
- Broad nasal bridge yellowing of
- Tin upper lip/ small lower the eyes and
jaw skin.
- long arm (q) deletion
PATAU
Chromosome SYNDROME
13 (TRISONOMY 13)
- Brain and
spinal cord
abnormalities
- Extra fingers
and toes
- Hypotonia/cle
nched hands

ANGELMAN SYNDROME PRADER- WILLI


Chromosome - Hand flapping movements SYNDROME
15 - Protein Ligase E3A
(UBE3A) Gene - Insatiable appetite
- Mild intellectual
15P13MICRODELETION disabilities
- Long face , broad - Temper outburst,
eyebrows compulsion
- Bipolar, schizo
- Depressed nasal bridge

ACUTE PROMYELOCYTE -
Chromosome KOOLEN DE VRIES CHARCOT- MARIE LEUKEMIA
- Cheerful and sociable TOOTH - Bone marrow
17 disposition - Nose/ gum bleed
- bulbous nose; nose with a - Weakness in - Extreme menstrual
broad tip, often called legs bleeding
pearshaped or tubular and - High foot - Small red dots
prominent ears arches under skin
- KANSL1 - Curled toes - PML gene
(hammertoes) chromosome 15
SMITH MAGENIS SYNDROME - peripheral - RARA gene on
- Full cheeks deep eyes myelin Chromosome 17
- Aggressive, impulsive protenin-22
- Self hugger
- Square shaped face
- chromosome 17p11.2

EDWARDS -
18 Q syndrome SYNDROME
- Short stature TRISONOMY
- Hypotania 18
Chromosome - Abnormalities in skull and - Often
18 facial underweight
- a "carp-shaped" mouth, - Clenched and
deeply set eyes, club feet and
wrist
- Head is small
CYCLOPIA(SYNOPHTHALMIA) back of it is
- They had single large prominent
round eye in the center
of forehead
Chromosome DELETION DUPLICATION INVERSION TRANSLOC OTHERS
number ATION
-
DOWN SYNDROME
Trsionomy 21

Chromosome 21 - Flat face , small


nose
- Large tongues.
Upward slanting
eyes
- Moderat to severe
ID
- Has greater risk of
developing a
number of
medically
significant
problems
CAT EYE
DIGEORGE SYNDROME SCHMID-FRACCARO SYNDROME
- Anal atresia
Chromosome 22 - Bluish skin - Skin tags or pits in front of
- Breathing problem the ears
cleft palate - Unusually shaped ears
- Difficulty in feeding - Hypertelorism
- Downward slanting
palpebral fissures
- Strabismus
(NON DISJUNCTION)
TURNER SYNDROME MECP2 DUPLICATION KLINFELTER SYNDROME
- short stature, which SYNDROME - tall
Chromosome 23 becomes evident by - breast enlargement
about age 5. An early - trisomy Xq28 - SMALL PENIS
loss of ovarian function long arm (q) of
(ovarian hypofunction - the X chromosome ADRENOLEUKODYSTROPHY
or premature ovarian (Xq28). - shortage
failure) is also very - progressive spasticity - ABCD1
common. - a condition - Worsening muscle
- Stocky Built (48 inches) characterized by weakness
- Arms that turned out
muscle stiffness that is
slightly at the elbow HEMOPHILIA
worsened with
- Receding lower jaw - Slow blood clotting
movement and can be
- Short webbed neck process
- Low hairline at the back associated with
of the neck involuntary muscle
DUCHENNE MUSCULAR
- growth and sexual spasms
DYSTROPHY (DMD)
development, which - Absence of dystrophi
why girls with disorder
- progressive muscle
are shorter than normal
degeneration and
and have incompletely
weakness.
developed sexual
characteristics