Altares, Stephano Kurt Nicolo D.
BS BIOLOGY IIB
1. Define karyotype.
A karyotype is the complete set of chromosomes in an organism's cells. It includes the
number, size, and shape of the chromosomes. Karyotypes are used to identify chromosomal
abnormalities, which can cause a variety of genetic disorders.
2. what can karyotypes be used to determine?
Karyotypes are primarily used to diagnose chromosomal abnormalities, which can be the root
cause of various genetic diseases and condition:
● Number of Chromosomes: A healthy human cell (somatic cell) typically has 46
chromosomes, with 23 pairs. Karyotypes can reveal missing or extra chromosomes,
leading to conditions like Down syndrome (extra chromosome 21) or Turner
syndrome (missing X chromosome).
● Structural Abnormalities: Karyotypes can identify abnormalities in the structure of
chromosomes, such as deletions, duplications, or translocations (where parts of
chromosomes swap places). These changes can disrupt gene function and cause
various health problems.
● Sex Chromosomes: Karyotypes can determine an individual's sex chromosomes (XX
for female, XY for male) and identify chromosomal abnormalities related to sex
development, like Klinefelter syndrome (XXY) or Turner syndrome.
● Recurrent Miscarriages: Karyotypes can be used in couples with a history of
miscarriages to identify chromosomal problems in the fetus that might be causing
pregnancy loss.
● Genetic Disorders: If someone has symptoms suggestive of a genetic disorder, a
karyotype test can help pinpoint specific chromosomal abnormalities associated with
that condition.
● Certain Cancers: Some cancers are linked to chromosomal abnormalities, and
karyotyping can be used to identify these changes in the course of cancer diagnosis.
3. How many chromosomes do normal humans have?
Humans typically have 23 pairs of chromosomes, or 46 chromosomes
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4. How did you know if 2 chromosomes were a homologous pair (What made you pair 2
chromosomes together)?
Homologous chromosomes are paired based on their similar size, centromere position, and
banding pattern when stained. During meiosis, they align and undergo crossing over,
exchanging genetic material. This pairing ensures proper segregation of genetic material,
promoting genetic diversity. Additionally, homologous chromosomes carry genes for the
same traits, albeit with potential variations, inherited from each parent.
5. What does the 23rd pair of chromosomes determine?
The 23rd chromosome pair determines an individual's sex. Females typically have two X
chromosomes (XX), while males have one X and one Y chromosome (XY).
6. The first 22 pairs of chromosomes are homologous in a normal person. Is that
"always true for the 23rd pair of chromosomes? Explain your answer.
No, the 23rd chromosome pair (sex chromosomes) isn't always homologous in humans.
Females (XX) have homologous sex chromosomes, but males (XY) have non-homologous
ones. The X chromosome is similar in size and gene content, while the Y chromosome is
much smaller and carries genes specific to male development.
7. What is the gender (sex) of your baby?
Female.
8. Was your baby's karyotype normal (yes/no)?
No
9. If the karyotype was abnormal, what is the disorder your baby has (use the
Explanation of Chromosome Disorders Handout)?
Edward’s syndrome, due to its trisomy 18 an extra chromosomes 18.
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10. Describe the disorder your baby has. If your baby is normal write "Normal Baby".
Edwards syndrome, also called trisomy 18, is a serious genetic condition.
● Extra Chromosome: It occurs when a baby has an extra copy of chromosome 18,
disrupting normal development.
● Symptoms: This leads to slow growth before birth, low birth weight, and various
malformations like a small head, clenched fists, and heart/organ defects.
● Severity: Most babies with Edwards syndrome don't survive birth or the first year due
to complications. Some may live for a few years but face intellectual disabilities and
ongoing health issues.
● Cause: The extra chromosome usually happens by chance during egg or sperm
formation, not due to parental factors.
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