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Biology Investigatory Project Chromosoma
Biology Investigatory Project Chromosoma
Biology Investigatory Project Chromosoma
BIOLOGY
INVESTIGATORY
PROJECT
CHROMOSOMAL
DISORDER
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CERTIFICATE
Certified that this is to bonafide the project work done by
S.T.SRI KISHORE of class XII-A during the academic year
2017-18.
DATE:
EXTERNAL EXAMINER
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ACKNOWLEDGEMENT
I hereby express my sincere gratitude to
Miss.V.TAMILARASI,PGT (BIOLOGY) Kendriya
Vidyalaya, Air Force Station ,Sulur for her vital support ,
guidance .
1. Wolf-Hirschhorn syndrome
D e s c r i p ti o n : W o l f - H i r s c h h o r n s yn d r o m e i s c a u s e d b y t h e
d e le ti o n o f t h e d i s t a l s h o r t a r m o f c h r o m o s o m e 4 . T h e
d i s o r d e r ’ s m a j o r f e a t u r e s in c l u d e a c h a r a c t e r i s ti c f a c i a l
a p p e a r a n c e , d e l a y e d g r o w t h an d d e v e l o p m e n t , i n t e l l e c t u a l
d i s ab i l i t y , an d s e i z u r e s .
2. Jacobsen Syndrome
Description: Jacobsen syndrome, also known as 11q deletion disorder, results
from a loss of genetic material from the end of the long arm of chromosome .
Signs and symptoms of this condition vary, but most individuals experience
delayed development in motor skills and speech, cognitive impairments,
learning difficulties, and some behavioral problems.
3. Angelman syndrome
Description: Angelman syndrome (AS) is an example of genomic imprinting,
where the deletion or inactivitation of genes on the maternally inherited
chromosome 15 causes the paternal copy, which may be of normal sequence,
to be imprinted and silenced. AS is characterized by intellectual and
developmental delays, sleep disturbances, seizures, and jerky movements, but
also frequent laughter or smiling and usually have a happy demeanor.
Consistent (100%)
Strabismus
Hypopigmented skin and eyes
Tongue thrusting; suck/swallowing disorders
Hyperactive tendon reflexes
Feeding problems during infancy
Uplifted, flexed arms during walking
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Prominent mandible
Increased sensitivity to heat
Wide mouth, wide-spaced teeth
Sleep disturbance
Frequent drooling, protruding tongue
Attraction to/fascination with water
Excessive chewing/mouthing behaviors
Flat back of head
Smooth palms
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4. Turner syndrome
Description: Turner syndrome (TS) occurs when one of the two X
chromosomes in females is either missing or incomplete. The most common
symptoms are short stature and gonadal dysgenesis, which can cause
incomplete sexual development and ovarian failure and infertility. As of right
now, there is no known cause of TS.
Short stature
Lymphedema (swelling) of the hands and feet of a newborn
Broad chest (shield chest) and widely spaced nipples
Low posterior hairline
Low-set ears
Reproductive sterility
Rudimentary ovaries gonadal streak (underdeveloped gonadal structures
that later become fibrotic)
Amenorrhoea, the absence of a menstrual period
Increased weight, obesity
Shortened metacarpal IV
Small fingernails
Characteristic facial features
Webbed neck from cystic hygroma in infancy
Aortic valve stenosis
Coarctation of the aorta
Bicuspid aortic valve (most common cardiac problem)
Horseshoe kidney
Visual impairments – sclera, cornea, glaucoma, etc.
Ear infections and hearing loss
High waist-to-hip ratio (the hips are not much bigger than the waist)
Attention deficit hyperactivity disorder (problems with concentration,
memory, attention with hyperactivity seen mostly in childhood and
adolescence)
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Nonverbal learning disability (problems with maths, social skills, and spatial
relations)
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Seizures (with or without hypocalcemia)
Skeletal abnormalities
Psychiatric disorders
This syndrome is characterized by incomplete penetrance. Therefore, there is a
marked variability in clinical expression between the different patients. This
often makes early diagnosis difficult.
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6. Triple X Syndrome
Description: Triple X Syndrome is characterized by an extra X chromosome in
each of a female’s cells. It does not cause any unusual physical features but is
associated with the increased risk of learning disabilities and delayed
development of speech and language skills.
7. Williams Syndrome
Description: Williams’s syndrome is caused by a deletion of genetic material
from portions of the long arm of chromosome 7, a region that consists of more
than 25 genes. Researchers have identified a few of the specific genes related
to Williams syndrome, but the relationship between most of the genes in the
deleted region and the symptoms of Williams syndrome is still unknown.
The most common symptoms of Williams’s syndrome are heart defects and
unusual facial features. Other symptoms include failure to gain weight
appropriately in infancy (failure to thrive) and low muscle tone. Individuals
with Williams’s syndrome tend to have widely spaced teeth, a long philtrum,
and a flattened nasal bridge.
Most individuals with Williams’s syndrome are highly verbal relative to their
IQ, and are overly sociable, having what has been described as a "cocktail
party" type personality. Individuals with WS hyperfocus on the eyes of others
in social engagements
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9. Trisomy 13
Description: Trisomy 13, also called Patau syndrome, is a disorder in which an
individual has three copies of genetic material from chromosome 13, rather
than two. It can occur in three forms: Trisomy 13, which has a third
chromosome 13 in all cells; Trisomy 13 mosaicism, which has a third
chromosome 13 in some cells; and partial Trisomy, which has the presence of
part of an extra chromosome 13 in the cells.
Nervous system
Intellectual disability and motor disorder
Microcephaly
Holoprosencephaly (failure of the forebrain to divide properly).
Structural eye defects, including microphthalmia, Peters'
anomaly, cataract, iris or fundus (coloboma), retinal dysplasia or retinal
detachment, sensory nystagmus, cortical visual loss, and optic nerve
hypoplasia
Meningomyelocele (a spinal defect)
Musculoskeletal and cutaneous
Polydactyly (extra digits)
Cyclopia
Proboscis
Congenital trigger digits
Low-set ears
Prominent heel
Deformed feet known as rocker-bottom feet
Omphalocele (abdominal defect)
Abnormal palm pattern
Overlapping of fingers over thumb
Cutis aplasia (missing portion of the skin/hair)
Urogenital
Abnormal genitalia
Kidney defects
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Other
Heart defects (ventricular septal defect) (Patent Ductus Arteriosus)
Dextrocardia
Single umbilical artery
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Bibliography
WIKIPEDIA
WIKI HOW
HEALTH INFO
CHROMOSOMAL DISSORDER.UA