NAME: JARED C.

MENDEZ_____________ DATE: _OCTOBER 12, 2022

YEAR & SECTION: S.Y. 2022 – 2023 stem d. Umali SUBJECT: GEN -BIO

CELL CYCLE DISEASES AND DISORDERS

ACTIVITY 1: Complete the Table

Direction: Complete the table below by determining the genotype and phenotypic effects of the
different genetic disorders.
 
Genetic Disorder Genotype Phenotypic Effects
1. Down syndrome Genotype of Down's syndrome is 45+ Down syndrome (DS) is a major cause
XX where 21st chromosome undergoes of mental retardation and congenital
trisomy. heart disease. Besides a characteristic
set of facial and physical features, DS
is associated with congenital
anomalies of the gastrointestinal
tract, an increased risk of leukemia,
immune system defects, and an
Alzheimer-like dementia.

2. Turner’s syndrome Females usually have two X TS is associated with abnormalities of

chromosomes; however, patients with
Turner syndrome have only a single X
chromosome or one normal and one
defective X or Y chromosome. This
abnormality can cause medical
problems such as short stature,
premature ovarian failure and heart or
kidney defects.
the X chromosome and characteristic
clinical features of short stature,
gonadal dysgenesis, sexual
developmental deficiencies, cardiac
and/or renal defects, webbed neck,
low-set ears, skeletal deformities
including cubitus valgus, a propensity
to ear infections and hearing 

Turner syndrome (TS), also known as

45,X, or 45,X0, is a genetic condition in
which a female is partially or completely
missing an X chromosome. Signs and
 symptoms vary among those affected.
3. Klinefelter’s The genotype of a person having
syndrome
Klinefelter syndrome is 44+XXY. It is
caused due to the presence of an
additional copy of X-chromosomes
resulting in 44+XXY type chromosome
complement. The defect appears due to
an abnormal egg (22+XX) and a normal
(22+X) and abnormal sperm (22+XY).
4. Triple X syndrome Triple X syndrome, also called trisomy X
or 47,XXX, is a genetic disorder that
affects about 1 in 1,000 females.
Females normally have two X
chromosomes in all cells — one X
Klinefelter syndrome may adversely
affect testicular growth, resulting in
smaller than normal testicles, which
can lead to lower production of
testosterone. The syndrome may also
cause reduced muscle mass, reduced
body and facial hair, and enlarged
breast tissue.
The phenotype associated with this
chromosomal disorder varies widely,
but most commonly includes
language-based learning disabilities,
developmental dyspraxia, tall stature,
 chromosome from each parent. In triple
X syndrome, a female has three X
chromosomes.
5. Cri-du-Chat Cri-du-chat syndrome is caused by a
syndrome
deletion of the end of the short (p) arm
of chromosome 5. This chromosomal
change is written as 5p-. (46,5p-)
ACTIVITY 2: Identify the disorder/s that may happen when the following errors in
mitosis/meiosis takes place:
Error During Cell Division
1. Incorrect DNA copy
Mutation
2. Chromosomes are attached to string-
like spindles and begin to move to the Chromosome Abnormalities
middle of the cell.
low muscle tone (hypotonia), and
abnormal bending or curving of the
pinkies toward the ring fingers
(clinodactyly).
Differences in phenotype are
attributable to differences in
genotype, which also plays a role in
the severity and prognosis. The most
characteristic finding is a high-
pitched, monotonous cry. Other
features include microcephaly, low
birth weight, hypotonia, psychomotor
retardation, and craniofacial
malformations.
Disorder/s
3. Gain or loss of whole chromosomes. aneuploidy

4. A deletion that removes 2 Mb or more Cri-du-Chat Syndrome

from the tip of the short arm of the
chromosome.

5. Having extra X chromosomes (XXX).

Triple X syndrome