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Questions and Answers
Which chromosomal condition is characterized by having three copies of chromosome 21?
Which chromosomal condition is characterized by having three copies of chromosome 21?
- Fragile X Syndrome
- Klinefelter's Syndrome
- Turner's Syndrome
- Down's Syndrome (correct)
Which of the following is a common X-linked recessive disorder?
Which of the following is a common X-linked recessive disorder?
- Sickle Cell Disease
- Hemophilia (correct)
- Marfan Syndrome
- Cystic Fibrosis
What is the genetic makeup of an individual with Turner Syndrome?
What is the genetic makeup of an individual with Turner Syndrome?
- XXX
- XXY
- XO (correct)
- XY
What type of genetic abnormality is characterized by the presence of an extra X chromosome in males?
What type of genetic abnormality is characterized by the presence of an extra X chromosome in males?
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Why are males more affected by X-linked recessive disorders?
Why are males more affected by X-linked recessive disorders?
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Study Notes
Genetic & Chromosomal Abnormalities
- Mutations can result from environmental factors, leading to changes in chromosome number or structure.
- Down's Syndrome, also known as Trisomy 21, is caused by the presence of three copies of chromosome 21.
- Turner Syndrome results from monosomy characterized by the absence of one X chromosome (XO).
- Klinefelter Syndrome occurs due to the presence of an extra X chromosome in males, presenting as XXY.
Sex Linked Inheritance
- Disorders associated with genes located on sex chromosomes are categorized as sex-linked inheritance.
- Recessive traits on the X chromosome predominantly affect males due to their having only one X chromosome.
- Common recessive X-linked disorders include:
- Red-Green Color Blindness, impacting the perception of colors.
- Hemophilia, a condition that affects blood clotting.
- Fragile X Syndrome, which is a genetic condition associated with intellectual disability.
- X-linked recessive inheritance patterns can be illustrated in diagrams, showing how traits are passed from carrier mothers to their sons.
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