Module 3 and 4
Module 3 and 4
Module 3 and 4
Cri-du-chat Syndrome
Cri-du-chat, the French for cat’s cry, is the sound of a baby having this con-
dition when he/she cries. This is a genetic condition which is also known as 5p-
(5p minus) syndrome and cat cry syndrome. This is caused by deletion, an un-
common genetic condition whereby a part of the genetic segment in the small
arm known as the p arm of chromosome 5 is missing. Persons with cri-du-chat
syndrome suffers different symptoms. The variation of symptoms depends on
the size of the deleted part of the p arm. Common physical characteristics of
people with Cri-duchat syndrome include:
1. small head size 2. widely-spaced eyes 3. round or moon-like face
4. high-pitched cat-like cry 5. low weight at birth and 6. weak muscle tone during infancy
Patau Syndrome
Patau syndrome is also identified as Trisomy 13 syndrome. This is a condi-
tion in which each cell of the body of the affected individual has three copies of
chromosome 13 instead of two which is the standard number. This results to an
excess of genetic material which bring disruptions to the normal development of
the individual.
Persons having this chromosomal condition suffer serious physical abnor-
malities and intellectual disability which include:
1. cleft lip 2. cleft palate 3. heart defects 4. weak muscle tone
5. brain abnormalities 6. extra fingers or toes 7. eyes are poorly developed
Klinefelter Syndrome
Klinefelter Syndrome is also identified as 47, XXY syndrome. This condition
is a sex chromosome disorder due to the occurrence of an extra X chromo-
somes in the cell among male individuals. Normally, each human cell has 46
chromosomes. Twenty-two pairs or 44 chromosomes are called body chromo-
somes while only one pair or two of these are called sex chromosomes. Humans
have two sex chromosomes, the X and the Y. Males possess one X sex chromo-
some and one Y sex chromosome (XY), and females have two X sex chromo-
somes (XX). Males with Klinefelter syndrome hold an extra X chromosomes
(XXY) or 47 chromosomes in their cells. This results to multiple genes in the X
chromosomes. These extra genetic materials interrupt many developmental ac-
tivities including sexual development. Common physical characteristics of peo-
ple with Klinefelter syndrome include:
1. small testes 2. breast enlargement
3. decreased bone density 4. decreased muscle mass
5. unusually small penis or micropenis 6. presence of few hair on the body and face
The affected individual produces a decreased amount of testosterone hor-
mone, a hormone that controls the male sexual development even before birth
and during puberty. The affected males are infertile.
Why is meiosis important?
Meiosis is important in the formation of sex cells. It makes sure that all or-
ganisms produced sexually contain the standard number of chromosomes.
Among human beings and most other mammals, meiosis produces genetic vari-
ation through recombination whereby different species exchange genetic mate-
rials. This process produces offspring with mixed traits that vary from either
parent. When two germ cells combine during fertilization, the chances for ge-
netic variation to occur increase even further. Due to this random recombina-
tion of DNA in sexual reproduction, diversity of life on Earth increases.
What I Need to Know
What is It
Gregor Mendel and His Experiment on Garden Peas
In the F2 generation, Mendel counted 5,474 round seeds and 1,850 wrin-
kled seeds. The round seeds were about three times as many as the wrinkled
seeds. The ratio of round seeds to wrinkled seeds was 2.96:1 or nearly 3:1.
Moreover, in the F1 generation the wrinkled seed type did not appear but reap-
peared in the one-fourth of the F2 generation. He then concluded that the F1
generation received the capabilities to produce both phenotypes from their par-
ents which are retained and passed on to their future offspring. The produced
ratios suggest the probability of occurrence of the genotype and phenotype in a
generation rather than the ability to generate few offspring. Table 2 summariz-
es the results on Mendel’s second set of experiments.
The Law of Segregation states that all pairs of genes for all the traits of an
organism segregate or separate from each other during meiosis or gametes
(sex cells) formation. Gregor Mendel argued that for any trait, an organism
must inherit one factor from the sperm and one factor from the egg. Thus, a
new organism receives one factor for each trait from each parent.
Round and wrinkled seeds during gamete formation
The gametes produced by a pure round seed, pure wrinkled seed and hybrid
round seed pea plants
The result of crossing pure-breeding round and wrinkled seed
A complete Punnett square will always show the resulting genotypes and
phenotypes of the resulting progeny or offspring.
Result:
● There are 16 offspring from the cross of both hybrid/heterozygous round, yel-
low seed pea plants.
● The genotypes are:
1 RRYY - homozygous round, yellow seed
2 RRYy - homozygous round, heterozygous yellow seed
1 RRyy - homozygous round, green seed
2 RrYY - heterozygous round, homozygous yellow seed
4 RrYy - heterozygous round, yellow seed
2 Rryy - heterozygous round, homozygous green seed
1 rrYY - homozygous wrinkled, homozygous yellow seed
2 rrYy - homozygous wrinkled, heterozygous yellow seed
1 rryy - homozygous wrinkled, green seed
● The genotypic ratio: 1:2:1:2:4:2:1:2:1
● The phenotypes are:
9 - round, yellow seed 3 - wrinkled, yellow seed
3 - round, green seed 1 - wrinkled, green seed
● The phenotypic ratio: 9:3:3:1
References
Books
Campo, Pia C., May R. Chavez, Maria Helen D.H. Catalan, Ph.D., Leticia V. Catris,
Ph.D., Marlene B. Ferido, Ph.D., Ian Kendrich C. Fontanilla, Ph.D.,
Jacqueline Rose M. Gutierrez, Shirley R. Jusayan, Michael Anthony B.
Mantala, Cerilina M. Maramag, Marie Paz E. Morales, Eligio C. Obille, Jr.,
Digna Paningbatan, Genevieve Faye Pasamonte, Ma. Dulcelina O.
Sebastian, Rolando M. Tan, and Rodolfo S. Treyes, Ph.D. Science Learner’s
Module. Philippines: Vibal Publishing House, Inc., 2013.
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Villamil. Science and Technology. Biology. SEDP. Quezon City: Abiva
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Lumague, Myrna Nacional, Marilou Sergote, Violeta Tupas, Liwayway
Ventura, Marilyn Bautista, Susana Ibay, Josephine Obligar, Reynaldo San
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