ALL INDIA SENIOR SECONDARY CERTIFICATE EXAMINATION

(CENTRAL BOARD OF SECONDARY EDUCATION)

ST. MICHAEL’S ENGLISH MEDIUM SCHOOL

RAMBHATA RAIGARH
CG-496001
2023-24

TOPIC: CHROMOSOMAL DISORDER

SCHOOL CODE-15237 AFFILATION NO:3330104

SUMBITTED BY:- SUBMITTED TO:-

WHAT IS CHROMOSOMAL DISORDER?

SJ
QSCA CHROMOSOMAL DISORDER IS DEFINED BY CHANGE
IN CHROMOSOME NO. IN AN INDIVIDUAL.

MAIN REASON BEHIND CHROMOSOMAL DISORDER IS

ANEUPLOIDY.
WHAT IS ANEUPLOIDY ?
> FAILURE OF SEGREGATION OF CHROMATID DURING
CELL DIVISION
RESULT IN GAIN OR LOSE OF CHROMOSOME AND ITS
TYPE.
 TYPES OF ANEUPLOIDY
 1. HYPOPLOIDY
When there is a loss of chromosome in an individual it is defined as
hypoploidy.

TYPES OF HYPOPLOIDY

A] MONOSOMY: When an individual loss one chromosome from

his/her set of chromosome than the this condition
is termed as monosomy.

NORMAL INDIVIDUAL: 2n=46

MONOSOMAL INDIVIDUAL: 2n=45
B] NULLISOMY: When and individual loss a pair of chromosome from
his/her set of chromosome than this condition is
termed as nullisomy.
NORMAL INDIVIDUAL: 2n=46
NULLISOMAL INDIVIDUAL= 2n=44

2. HYPERPLOIDY: When there is a gain of chromosome in an any

individual then this condition is termed as
hyperploidy.
TYPES OF HYPERPLOIDY

A] TRISOMY: When there is a gain of one chromosome in an

individual than this condition is termed as trisomy.
>NORMAL INDIVIDUAL: 2n=46
>TRISOMAL INDIVIDUAL: 2n=47

B] TETRASOMY: When there is a gain of pair of chromosome in an

individual than this condition is termed as tetrasomy.
>NORMAL INDIVIDUAL: 2n=46
>TETRASOMAL INDIVIDUAL: 2n=48
MAJOR CHROMOSOMAL DISORDER

 1. DOWN SYNDROME

 DISCOVERED BY- SIR LANGDON DOWN

 IN YEAR-1856
 IT IS AN AUTOSOMAL AND TRISOMAL DISORDER.
 NORMAL INDIVIDUAL- [AA+XY] OR [AA+XX]
 DOWN SYNDROME INDIVIDUAL-[AAA+XY] OR [AAA+XX]

 SYMPTOMS OF DOWN SYNDROME.

 1 SHORT STATURE WITH SMALL ROUND HEAD.
 2 FURROWED TONGUE.
 3 PARTIALLY OPEN MOUTH.
 4 BROAD PALM WITH PALM CREASE.
 5 MONGOLIAN IDIOCY
 6 PSYCHOMOTOR
 7 MENTAL RETARDATION.
2. KLINEFELTER SYNDROME.
 DISCOVERED BY- SIR HENRY KLINEFELTER.
 IN YEAR-1940.
 IT IS AN SEX CHROMOSOMAL AND TRISOMAL DISORDER.
 THIS DISEASE OCCUR IN MALES ONLY.
 OCCUR DUE TO INCREASE IN ONE EXTRA X CHROMOSOME.
 NORMAL MALE-[44+XY]
 KLINEFELTER SYNDROME INDIVIDUAL-[44+XXY].

 SYMPTOMS OF KLINEFELTER SYNDROME-

 STERILITY IN MALES
 UNDERDEVELOPED TESTIS
 MENTAL RETARDATION.
 OVERALL MASCULINE DEVELOPMENT BUT PRESENCE OF SOME FEMININE CHARACTERISTICS.
 DEVELOPMENT OF BREAST [GYNOCOMESTIA].
3. TURNER SYNDROME
 DISCOVERED BY – SIR HENRI TURNER.
 IN YEAR – 1938
 IT IS AN SEX CHROMOSOMAL AND MONOSOMAL DISORDER.
 OCCURD DUE TO ABSENCE OF ONE X CHROMOSOME .
 GENERALLY OCCURS ONLY FEMALE BODY ONLY.
 NORMAL FEMALE-[44+XX]
 TURNER SYNDROME AFFECTED FEMALE-[44=XO]

 SYMPTOMS OF TURNER SYNDROME-

 STERILITY IN FEMALES.
 RUDIMENTARY OVARY.
 LACK OF SECONDARY SEXUAL CHARACTERISTICS
 SHORT HEIGHT AS COMPARED TO OTHER FEMALES IN THE FAMILY.