BIOLOGY INVESTIGATORY

PROJECT WORK
2023-24
TOPIC – CHROMOSOMAL DISORDER
PREPARED BY – CHINMOY GHOSE
CLASS – XII D
ROLL NO - 21
 BONAFIDE CERTIFICATE

THIS IS TO CERTIFY THAT THE PROJECT ENTITLE 'CHROMOSOMAL DISORDER' PREPARED BY

CHINMOY GHOSE CLASS-XII’D
THIS IS TO THE TERMS AND CONDITIONS LED BY CBSE FOR AISSCE. IT EMBODIES THE
ORIGINAL WORK UNDER THE SUPERVISION OF MR. GYANA RANJAN DASH
DEPARTMENT OF BIOLOGY

SIGNATURE OF STUDENT SIGNATURE OF TEACHER

 ACKNOWLEDGEMENT
I WOULD LIKE TO EXPRESS MY SPECIAL THANKS OF GRATITUDE TO MY TEACHER
MR. GYANA RANJAN DASH WHO GAVE ME THE GOLDEN OPPORTUNITY TO DO
THIS WONDERFUL PROJECT ON THE TOPIC CHROMOSOMAL DISORDER WHICH
ALSO HELPED ME IN DOING LOTS OF RESEARCH AND I CAME TO KNOW ABOUT
SO MANY NEW THINGS. I AM REALLY THANKFUL TO THEM.
SECONDLY I WOULD ALSO LIKE TO THANK MY PARENTS AND SENIORS WHO
HELPED ME A LOT IN FINALIZING THIS PROJECT WITHIN THE LIMITED TIME FRAME.
CHINMOY GHOSE
CLASS – XII D
DAV PUBLIC SCHOOL
 PREFACE
• BIOLOGY IS THE STUDY OF LIFE IN ITS ENTIRELY. THE GROWTH OF BIOLOGY AS A NATURAL
SCIENCE IS INTERESTING FROM MANY POINTS OF VIEWS. THIS PROJECT DEALS WITH
CHROMOSOMAL DISORDER
• CHROMOSOME IS MICROSCOPIC THREAD-LIKE PART OF THE CELL THAT CARRIES HEREDITARY
INFORMATION IN THE FORM OF GENES. A DEFINITE FEATURE OF ANY CHROMOSOM IS IT'S
COMPACTNESS. FOR INSTANCE, 46 CHROMOSOMES FOUND IN HUMAN CELLS HAVE A COMBINED
LENGTH OF 200MM, IF THE CHROMOSOMES WERE TO BE UNRAVELED, THE GENETIC MATERIAL
THEY CONTAIN WOULD MEASURE ROUGHLY 2METRES IN LENGTH. THE COMPACTNESS OF
CHROMOSOMES PLAYS AN IMPORTANT ROLE IN HELPING TO ORGANIZE GENETIC MATERIAL
DURING CELL DIVERSION AND ENABLING IT TO FIT INSIDE STRUCTURES SUCH AS THE NUCLEUS OF
A CELL.
• BUT SOMETIMES DUE TO SOME MUTATIONS OF SOME ABNORMALITIES I.E ABSENCE OR EXCESS OR
ABNORMAL ARRANGEMENT OF ONE OR MORE CHROMOSOMES, WHICH LEAD TO DISEASE LIKE-
DOWN'S SYNDROME, TURNER'S SYNDROME, KLINEFELTOR'S SYNDROME, CRI-DU-CHAT
SYNDROME, TRISOMY-13, TRISOMY-18, ETC.
• THIS PROJECT THROWS LIGHT ON 3 DISEASES I.E DOWN'S SYNDROME, TURNER'S SYNDROME
AND KLINEFELTER'S SYNDROME. THIS PROJECT DEALS WITH THE CAUSES, SYMPTOMS, TESTS AND
TREATMENT OF THE ABOVE MENTIONED DISEASE.
CONTENT
• INTRODUCTION
• DOWN’S SYNDROME
• KLINEFELTER’S SYNDROME
• CONCLUSION
• BIBLIOGRAPHY
 INTRODUCTION
CHROMOSOMAL DISORDER, ANY SYNDROME CHARACTERIZED BY MALFORMATIONS
OR MALFUNCTIONS IN ANY OF THE BODY'S SYSTEMS, AND CAUSED BY ABNORMAL
CHROMOSOME NUMBER OR CONSTITUTION. HUMANS HAVE 46 CHROMOSOMES
ARRANGED IN 23 PAIRS THE PAIRS VARY IN SIZE AND SHAPE AND ARE NUMBERED BY
CONVENTION. TWENTY-TWO OF THE PAIRS ARE AUTOSOMES AND ONE PAIR NUMBER
23,IS THE SEX CHROMOSOMES. ANY VARIATION FROM THIS PATTERN CAUSES
ABNORMALITIES. A CHROMOSOME FROM ANY OF THE PAIRS MAY BE DUPLICATED
(TRISOMY) OR ABSENT (MONOSOMY); AN ENTIRE SET OF 23 CHROMOSOME PAIRS
CAN BE DUPLICATED THREE (TRIPLOIDY) OR MORE(POLYPLOIDY) TIMES,OR ONE ARM
OF SINGLE CHROMOSOME MAY BE MISSING (DELETION). PART OF ONE
CHROMOSOME MAY BE TRANSFERRED TO ANOTHER (TRANSLOCATION), WHICH HAS
NO EFFECT ON THE PERSON IN WHICH IT OCCURS, BUT GENERALLY CAUSES A
DELETION OR DUPLICATION SYNDROME IN HIS OR HER CHILDREN. CHANGES IN
CHROMOSOME NUMBER OCCUR DURING SPERM OR EGG FORMATION OR IN THE
EARLY DEVELOPMENT OF THE EMBRYO.
IN THE LATER CASE, A MIXTURE OF CELLS, SOME NORMAL CHROMOSOME AND SOME CONTAINING ABNORMAL
CHROMOSOME COMPLEMENTS, MAY OCCUR, A CONDITION KNOWN AS MUTATION. IN EITHER CASE,
ABNORMALITIES OF DEVELOPMENTS OCCURS BECAUSE OF THE UNUSUAL GENETIC SIGNALS TRANSMITTED BY
THE CHROMOSOMES. SOME ARE OF THESE CHROMOSOME INBALANCES OCCURS IN 0.5 PERCENT OF ALL
BIRTHS. DOWN'S SYNDROME (FORMERLY KNOWN AS MONGOLISM), TRISOMY OF CHROMOSOME 21, WAS
THE FIRST CHROMOSOMAL DISORDER IDENTIFIED (IN 1959). IT IS THE MOST COMMON TRISOMY AND THE
MOST COMMON MONGOLISM, TRISOMY OF CHROMOSOME 21, WAS THE FIRST CHROMOSOMAL DISORDER
IDENTIFIED IN 1959, IT IS THE MOST COMMON TRISOMY AND THE MOST COMMON CAUSE OF INTELLECTUAL
DISABILITIES. SEX CHROMOSOME ABNORMALITIES ARE MORE COMMON AND TEND TO HAVE LESS-DRASTIC
EFFECTS THAN AUTOSOMAL ABNORMALITIES.
NORMAL FEMALES HAVE TWO X CHROMOSOMES, AND MALES HAVE X AND Y; ABNORMALITIES IN SEX
CHROMOSOME PRODUCE TURNER'S SYNDROME (XO), KLINEFELTER'S SYNDROME (XXX). SEVERAL
CHROMOSOMAL DISORDERS CAN BE DIAGNOSED BEFORE BIRTH BY EXAMINING CELLS OBTAINED FROM THE
AMNIOTIC FLUID. SOME OTHER EXAMPLES OF CHROMOSOMAL DISEASES ARE- WILLIAM'S SYNDROME,
EDWARD'S SYNDROME (TRISOMY-18), PATAU SYNDROME (TRISOMY-13), CRI- DU-CHAT SYNDROME & JACOB'S
SYNDROME (XXX)
DOWN’S SYNDROME

DOWN'S SYNDROME, ALSO CALLED TRISOMY 21,OR (FORMERLY) MONGOLISM, CONGENITAL

DISORDER CAUSED BY AN EXTRA CHROMOSOME ON THE CHROMOSOME 21 PAIR, GIVING A
PERSON TOTAL OF 477 CHROMOSOMES RATHER THAN THE NORMAL 46. HAVING EXTRA OR
ABNORMAL CHROMOSOMES CHANGE THE WAY THE BRAIN AND BODY DEVELOP.

• CAUSES
RISK OF HAVING A BABY WITH DOWN SYNDROME IS HIGHER IF;

i) YOU ARE OLDER WHEN YOU GOT PREGNANT. MANY DOCTORS BELIEVE THAT THE RISK
INCREASES FOR WOMAN AGE 35 OR OLDER.
ii) YOU HAVE BROTHER OR SISTER WHO HAS DOWN'S SYNDROME.

iii) III) YOU HAVE ANOTHER BABY WITH DOWN SYNDROME.

• SYMPTOMS
MANY CHILDREN WITH DOWN SYNDROME ARE BORN WITH HEART, INTESTINE, EAR OR
BREATHING PROBLEMS. THESE HEALTH CONDITIONS ALSO LEAD TO OTHER PROBLEMS, SUCH AS
AIRWAY (RESPIRATORY) INFECTIONS OR HEARING LOSS. BUT MOST OF THESE PROBLEMS CAN BE
TREATED.
• MOST CHILDREN WITH DOWN’S SYNDROME ALSO HAVE
i) DISTINCTIVE FACIAL FEATURES, SUCH AS A FLAT FACE, SLANTING EYES AND A SMALL MOUTH.
ii) 1) A SHORT NECK AND SHORT LEGS AND ARMS.I)
iii) LOW MUSCLE TANE AND LOOSE JOINTS. MUSCLE TANE IMPROVES BY LATE CHILDHOOD.IV)
iv) BELOW-AVERAGE INTELLIGENCE.
• TESTS
DOCTOR MAY SUGGEST TESTS DURING PREGNANCY TO FIND OUT AIF THE BABY HAS DOWN
SYNDROME. THIS INCLUDES:-
1. TESTS, SUCH AS AN ULTRA SOUND OR A BLOOD TEST DURING FIRST OR SECOND TRIMESTER.1.
SCREENING THESE CAN HELP SO IF THE DEVELOPING BABY IS AT RISK OF DOWN SYNDROME. BUT
THESE TESTS O SOMETIMES GIVE FALSE POSITIVE OR FALSE NEGATIVE RESULTS.
2. DIAGNOSTIC TESTS, SUCH AS CHORIONIC VILLAS SAMPLING OR AMNIOCENTESIS. THIS CAN SHOW
IF THE BABY HAS DOWN SYNDROME. THESE TESTS ARE CONDUCTED IF ABNORMAL RESULTS FROM A
SCREENING TEST ARE OBTAINED OR IF WORRIED ABOUT DOWN SYNDROME
 KLINEFELTER’S SYNDROME
• CAUSE
i) PRESENCE OF ADDITIONAL COPY OF X-CHROMOSOME RESULTING IN
KARYOTYPE 44+XXY. I.E.47.
• SYMPTOMS
i) SEX OF INDIVIDUAL IS MASCULINE BUT POSSESS FEMININE CHARACTERS.
ii) POOR BEARD GROWTH AND OFTEN STERILE.
iii) GIANATOSMIA DEVELOPMENT OF THE BREAST.I
iv) FEMINE PITCHED VOICE.
v) TALL STATURE.
• DIAGNOSIS
1. HORMONE TESTING : BLOOD OR URINE SAMPLE CAN REVEAL ABNORMAL HORMONAL LEVELS THAT
ARE SIGN OF KLINEFELTER SYNDROME.
2. CHROMOSOMAL ANALYSIS : BLOOD SAMPLE IS SENT TO LAB TO CHECK SHAPE AND NUMBER OF
CHROMOSOME
• TREATMENT
1. BREAST TISSUE REMOVAL
2. SPEECH AND PHYSICAL THERAPY
3. FERTILITY TREATMENT
4. PSYCHOLOGICAL COUNSELLING
 TURNER’S SYNDROME
• CAUSES
ABSENCE OF ONE OF THE X CHROMOSOME, RESULTING IN KARYOTYPE 44+XO
THAT’S 45 CHROMOSOME.
• SYMPTOMS
1. STERILE FEMALE WITH RUDIMENTARY OVARIES
2. LACK OF OTHER SECONDARY SEXUAL CHARACTER
3. UNDER DEVELOPED FEMININE CHARACTERS
4. POOR BREAST DEVELOPMENT
5. SHORT STATURE, SMALL UTERUS, PUFFY FINGERS
 DIAGNOSIS
• ABOUT HALF OF THE CASES ARE DIAGNOSED WITHIN THE FIRST FEW MONTHS OF A
GIRL'S LIFE BY THE CHARACTERISTIC PHYSICAL SYMPTOMS (SWELLING OF THE HANDS
AND FEET, OR A HEART DEFECT).

• OTHER PATIENTS ARE DIAGNOSED IN ADOLESCENCE BECAUSE THEY FAIL TO GROW

NORMALLY OR GO THROUGH PUBERTY.
 TREATMENT
• HORMONE REPLACEMENT THERAPY IS THE BEST WAY TO TREAT THIS DISORDER.
• TEENAGERS ARE TREATED WITH GROWTH HORMONE TO HELP THEM REACH A NORMAL
HEIGHT.
• THEY MAY ALSO BE GIVEN LOW DOSES OF ANDROGENS (MALE HORMONES WHICH
FEMALES ALSO PRODUCE IN SMALL QUANTITIES) TO INCREASE HEIGHT AND
ENCOURAGE NORMAL HAIR AND MUSCLE GROWTH.
• SOME PATIENTS MAY TAKE THE FEMALE HORMONE ESTROGEN TO PROMOTE NORMAL
SEXUAL DEVELOPMENT.
 CONCLUSION
DETECTION OF CHROMOSOMAL ABNORMALITIES IN SPONTANEOUS
ABORTION MATERIALS IS VERY IMPORTANT TO CLARIFY THE CAUSES
OF LOSS OF PREGNANCY. DETECTION OF STRUCTURAL
CHROMOSOMAL ABNORMALITIES IN THE CASES AND THEIR CARRIER
PARENTS CAN PROVIDE PROPER GENETIC COUNSELING TO THESE
FAMILIES.