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Structure and Function of Chromosomes and the disorders

Definition : genetics unit in the nucleus composed of proteins and DNA.
Function : As a storage material Genetics
Structure :

1.kromonema: spiral-shaped ribbon.
2.kromomer: kromonema thickened.
3.centromere: inside there are small granules called spherical. the place occupied DNA.
5.Telomere: the ends of chromosomes function hinders the convergence of the
ends of 6.chromosomes one with the other end.
chromosome shape based on the location of the centromere :
1. Metasentris: the centromere is located median
2. Submetasentris: the centromere is located submedian.
3. Akrosentris: the centromere is located subterminal.
4. Telosentris : the centromer located at the threshold.
Tjio and levan (1956)
proven techniques chromosome examination stated that the nucleus of human
cells contain 46 chromosomes. 46xx for woman. 46xy for man.
chromosomal abnormality based on chromosom number is divided into
1. euploidi: change the entire set of chromosomes.
Monoploid : n
Poliploid :more than 2n

2. aneupoidi: modifiers on a single chromosome alone.
 Monosomic : 2n-1
Sindrom turner
a genetic disorder in women because of loss of one chromosome X.
This happens because the chromosome is missing or nondisjunction
moment or during gametogenesis (formation of gametes) or in the early
stages of division of the zygote.
- loss of skin folds around the neck
- swelling of the hands and feet
- resembling the face of a small child
- infertile
- no ovaries and uterus
 Nullisomic : 2n-2
 Trisomic : 2n+1

Autosom :
1. Down Syndrom :
Down syndrome is a genetic disorder caused when
abnormal cell division results in extra genetic material
from chromosome 21.

Though not all children with Down syndrome have the same
features, some of the more common features are:

Flattened facial features
Small head

Short neck

Protruding tongue

Upward slanting eyes, unusual for the child's ethnic

Unusually shaped or small ears

Poor muscle tone

Broad, short hands with a single crease in the palm

Relatively short fingers and small hands and feet

Excessive flexibility

Tiny white spots on the colored part (iris) of the eye
called Brushfield spots

Short height

2. Patau Syndrom:
is a syndrome caused by a chromosomal abnormality, in
which some or all of the cells of the body contain extra
genetic material from chromosome 13.
3. Edward Syndrom:
a chromosomal abnormality caused by the presence of all,
or part of, an extra 18th chromosome. This genetic
condition almost always results from nondisjunction during

1) Klinefelter Syndrom
is the set of symptoms that result from two or more X
chromosome in males. XXY. . Sometimes symptoms are more
prominent and may include weaker muscles, greater height,
poor coordination, less body hair, smaller genitals, breast
growth, and less interest in sex.

2) Jacob Syndrom
XYY Syndrome is a genetic condition that occurs when a
male’s genes have an extra Y chromosome. Females typically
have two X chromosomes (XX). Males typically have one X
chromosome and one Y chromosome (XY). Males with this
genetic condition have an extra copy of the Y chromosome in
each of their cells (XYY)

3) Super Woman
Triple X syndrome occurs when a woman has an excess of sex
chromosomes, the X chromosome(XXX)
 Double trisomi :2n+1+1
 Tetrasomi : 2n+2