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G.M.S.S.S.S NIT-03
BIOLOGY INVESIGATORY
PROJECT

On

Chromosomal disorder
SESSION 2023-24

Submitted by:
Ashish Kumar
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CERTIFICATE
This is hereby to certify that the original and investigation
work has been carried out to investigate about the subject
matter and the related data collection and investigation
has been completed solely, sincerely and satisfactorily by

“ASHISH KUMAR”

of Class 12th (C), Government Model Sanskriti Sr. Sec

School NIT-03 regarding his project titled
“CHROMOSOMAL DISORDER”

EXAMINER SIGNATURE

TEACHER SIGNATURE

ACKNOWLEDGEMENT
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I would like to express my deep gratitude and sincere

thanks to the principal sir
“DR .PARESH GUPTA”

For the encouragement and for all the facilities that he

provided for this work .

I extend my heartly thanks to “Mrs. Divya Choudhary”

who
guided me to the successful completion of this project
I take this opportunity to express my deep sense of
gratitude for the invaluable guidance constant
encouragement, and immense motivation, which has
sustained my efforts at all stage of this project work

1. Wolf-Hirschhorn syndrome
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Description: Wolf-Hirschhorn syndrome is caused by the

deletion of the distal short arm of chromosome 4. The
disorder’s major features include a characteristic facial
appearance, delayed growth and development, intellectual
d i s a b i l i t y , a n d s e i z u r e s . Signs and symptoms

The most common characteristics include a distinct craniofacial phenotype

(microcephaly, micrognathia, short philtrum, prominent glabella,
ocular hypertelorism, dysplastic ears and periauricular tags), growth
restriction, intellectual disability, muscle hypotonia, seizures, and congenital
heart defects. Less common characteristics
include hypospadias, colobomata of the iris, renal anomalies, and deafness.
Antibody deficiencies are also common, including common variable
immunodeficiencyand IgA deficiency. T-cell immunity is normal.

2. Jacobsen Syndrome
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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.

Signs and symptoms

 Mild to severe intellectual disabilities

 Low-platelets (thrombocytopenia)
 Facial/skeletal (dysplasia)
 Wide-set eyes caused by trigonocephaly
 Folding of the skin near the eye (epicanthus)
 Short, upturned nose (anteverted nostrils)
 Thin lips that curve inward
 Displaced receding chin (retrognathia)
 Low-set, misshapen ears
 Permanent upward curvature of the pinkie and ring fingers (camptodactyly)
 Large great toes/Hammer toes

3. Angelman syndrome
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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.

Signs and symptoms:

The following text lists signs and symptoms of Angelman syndrome and their
relative frequency in affected individuals.

Consistent (100%)

 Developmental delay, functionally severe

 Speech impairment, no or minimal use of words; receptive and non-verbal
communication skills higher than verbal ones
 Movement or balance disorder, usually ataxia of gait and/or tremulous
movement of limbs
 Behavioral uniqueness: any combination of frequent laughter/smiling;
apparent happy demeanor; easily excitable personality, often with hand
flapping movements; hypermotoric behavior; short attention span
Frequent (more than 80%)

 Delayed, disproportionate growth in head circumference, usually resulting

in microcephaly (absolute or relative) by age 2
 Seizures, onset usually less than 3 years of age
 Abnormal EEG, characteristic pattern with large amplitude slow-spike
waves
Associated (20–80%)

 Strabismus
 Hypopigmented skin and eyes
 Tongue thrusting; suck/swallowing disorders
 Hyperactive tendon reflexes
 Feeding problems during infancy
 Uplifted, flexed arms during walking
 Prominent mandible
 Increased sensitivity to heat
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 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

4. Turner syndrome
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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.

Signs and symptoms:

Of the following common symptoms of Turner syndrome, an individual may
have any combination of symptoms and is unlikely to have all symptoms.

 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)
 Nonverbal learning disability (problems with maths, social skills, and spatial
relations)
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5. 22q11.2 deletion syndrome

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Description: 22q11.2 deletion syndrome is caused by the deletion of a small

piece of chromosome 22 near the middle of the chromosome. Because signs
and symptoms of 22q11.2 deletion syndrome are varied, different groupings of
symptoms were once described as completely separate conditions, named
DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face
syndrome.

Signs and symtoms:

The features of this syndrome vary widely, even among members of the same
family, and affect many parts of the body. Characteristic signs and symptoms
may include birth defects such as congenital heart disease, defects in the
palate, most commonly related to neuromuscular problems with closure
(velopharyngeal insufficiency, or VPI), learning disabilities, mild differences in
facial features, and recurrent infections. Infections are common in children due
to problems with the immune system's T-cell-mediated response that in some
patients is due to an absent or hypoplastic thymus. 22q11.2 deletion syndrome
(22q11.2DS) may be first spotted when an affected newborn has heart defects
or convulsions from hypocalcemia due to malfunctioning parathyroid
glands and low levels of parathyroid hormone (parathormone).
Affected individuals may also have other kinds of birth defects including kidney
abnormalities and significant feeding difficulties as babies. Gastrointestinal
issues are also very common in this patient population. Digestive motility
issues may result in constipation.
Disorderssuchas hypothyroidism and hypoparathyroidism or thrombocytopeni
a (low platelet levels), and psychiatric illnesses are common late-occurring
features.
Microdeletions in chromosomal region 22q11.2 are associated with a 20 to 30-
fold increased risk of schizophrenia. Studies provide various rates of 22q11.2DS
in schizophrenia, ranging from 0.5 to 2.0% and averaging about 1.0%,
compared with the overall estimated 0.025% risk of the 22q11.2DS in the
general population.

Salient features can be summarized using the mnemonic CATCH-22 to

describe 22q11.2DS, with the 22 signifying the chromosomal abnormality is
found on the 22nd chromosome, as below:
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 Cardiac abnormality (commonly interrupted aortic arch, truncus

arteriosus and tetralogy of Fallot)
 Abnormal facies
 Thymic aplasia
 Cleft palate
 Hypocalcemia/hypoparathyroidism
Some experts support changing the name of both DiGeorge and
velocardiofacial syndromes to CATCH-22. The International 22q11.2
Foundation, through its Same Name Campaign, advocates for the consistent
use of 22q11.2 deletion syndrome.
Individuals with a 22q11.2 deletion can have many possible features, ranging in
number of associated features and from the mild to the very serious.

Symptoms shown to be common include:

 Congenital heart disease (40% of individuals),

particularly conotruncal malformations (interrupted aortic
arch (50%), persistent truncus arteriosus(34%), tetralogy of Fallot,
and ventricular septal defect)
 Cyanosis (bluish skin due to poor circulation of oxygen-rich blood)
 Palatal abnormalities (50%), particularly velopharyngeal incompetence,
submucosal cleft palate, and cleft palate; characteristic facial features
(present in the majority of Caucasian individuals) including hypertelorism
 Learning difficulties (90%), including cognitive deficits, attention deficit
disorders[18]
 Hypocalcemia (50%)(due to hypoparathyroidism)
 Significant feeding problems (30%)
 Renal anomalies (37%)
 Hearing loss (both conductive and sensorineural) (hearing loss with
craniofacial syndromes)
 Laryngotracheoesophageal anomalies
 Growth hormone deficiency
 Autoimmune disorders
 Immune disorders due to reduced T cell numbers
 Seizures (with or without hypocalcemia)
 Skeletal abnormalities
 Psychiatric disorders
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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.

6. Triple X Syndrome
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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.

signs and symptoms:

Because the vast majority of triple X females are never diagnosed, it may be
very difficult to make generalizations about the effects of this syndrome. The
samples that were studied were small and may be nonrepresentative. Because
of the lionization, inactivation, and formation of Barr bodies in all female cells,
only one X chromosome is active at any time. Thus, triple X syndrome most
often has only mild effects or has no effects. The symptoms vary from person
to person, with some women being more affected than others.

7. Williams Syndrome
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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.

Signs and symptoms:

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

8. Cri du Chat Syndrome

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Description: Cri du Chat syndrome results from missing a piece of chromosome

5. Symptoms include a high-pitched cry that sounds like a cat, downward slant
of the eyes, partial webbing or fusing of fingers or toes, and slow or incomplete
development of motor skills.

Signs and symptoms:

The syndrome gets its name from the characteristic cry of affected infants,
which is similar to that of a meowing kitten, due to problems with the larynx
and nervous system. About 1/3 of children lose the cry by age of 2 years. Other
symptoms of cri du chat syndrome may include:

 feeding problems because of difficulty in swallowing and sucking;

 low birth weight and poor growth;
 severe cognitive, speech, and motor delays;
 behavioral problems such as hyperactivity, aggression, outbursts, and
repetitive movements;
 unusual facial features which may change over time;
 excessive drooling;
 small head and jaw;
 wide eyes;
 skin tags in front of eyes.
Other common findings include hypotonia, microcephaly, growth retardation,
a round face with full cheeks, hypertelorism, epicanthal folds, down-
slanting palpebral fissures, strabismus, flat nasal bridge, down-turned
mouth, micrognathia, low-set ears, short fingers, single palmar creases, and
cardiac defects (e.g., ventricular septal defect[VSD], atrial septal
defect [ASD], patent ductus arteriosus [PDA], tetralogy of Fallot). Infertility is
not associated with Cri du chat.
It has also been observed that people with the condition have difficulties
communicating. While levels of proficiency can range from a few words to
short sentences, it is often recommended by medical professionals for the
child to undergo some sort of speech therapy/aid with the help of a
professional.
Less frequently encountered findings include cleft lip and palate, preauricular
tags and fistulas, thymic dysplasia, intestinal malrotation, megacolon, inguinal
hernia, dislocated hips, cryptorchidism, hypospadias, rare renal malformations
(e.g., horseshoe kidneys, renal ectopia or
agenesis, hydronephrosis), clinodactyly of the fifth fingers, talipes
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equinovarus, pes planus, syndactyly of the second and third fingers and
toes, oligosyndactyly, and hyperextensible joints. The syndrome may also
include various dermatoglyphics, including transverse flexion creases, distal
axial triradius, increased whorls and arches on digits, and a single palmar
crease.
Late childhood and adolescence findings include significant intellectual
disability, microcephaly, coarsening of facial features, prominent supraorbital
ridges, deep-set eyes, hypoplastic nasal bridge, severe malocclusion,
and scoliosis.
Affected females reach puberty, develop secondary sex characteristics, and
menstruate at the usual time. The genital tract is usually normal in females
except for a report of a bicornuate uterus. In males, testes are often small, but
spermatogenesis is thought to be normal.

9. Trisomy 13
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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.

Signs and symptoms:

Of those fetuses that do survive to gestation and subsequent birth, common

abnormalities may include:

 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
 Other
 Heart defects (ventricular septal defect) (Patent Ductus Arteriosus)
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 Dextrocardia
 Single umbilical artery

10. Cat eye syndrome

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Description: For individuals with cat eye syndrome, the short arm (known as
22p) and a small region of the long arm (22q) of chromosome 22 are present
three or four times, rather than twice. Characteristic features of the disorder
include mild growth delays before birth, mild mental deficiency, and
malformations of the skill and facial region, the heart, the kidneys, and/or the
anal region.

Signs and symptoms:

 Unilateral or bilateral iris coloboma (absence of tissue from the colored

part of the eyes)
 Downward-slanting Palpebral fissures (openings between the upper and
lower eyelids)
 Preauricular pits/tags (small depressions/growths of skin on the outer ears)
 Cardiac defects (such as TAPVR)
 Kidney problems (missing, extra, or underdeveloped kidneys)
 Short stature
 Scoliosis/Skeletal problems
 Intellectual disability – although most are intellectually normal, CES
patients occasionally exhibit moderate to severe disability.
 Micrognathia (smaller jaw)
 Hernias
 Cleft palate
 Rarer malformations can affect almost any organ
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Bibliography

WIKIPEDIA
WIKI HOW
HEALTH INFO
CHROMOSOMAL DISSORDER.UA