Sex Chromosome Abnormalities and Syndromes
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Questions and Answers

What is the karyotype associated with Klinefelter Syndrome?

  • 45, X
  • 46, XY
  • 46, XX
  • 47, XXY (correct)

Which of the following clinical features is a characteristic of Turner Syndrome?

  • Infertility
  • Decreased libido
  • Gynecomastia
  • Short stature (correct)

What percentage of individuals with Turner Syndrome are expected to have significant cognitive delays?

  • 50%
  • 5%
  • 10% (correct)
  • 60%

In Klinefelter Syndrome, which of the following can occur in adult patients?

<p>Thromboembolic disease (C)</p> Signup and view all the answers

What is a common reproductive concern for individuals with Turner Syndrome?

<p>Increased risk of miscarriage (C)</p> Signup and view all the answers

Which type of chromosome abnormality is characteristic of Turner Syndrome?

<p>Loss of an X chromosome (B)</p> Signup and view all the answers

Which feature distinguishes Klinefelter Syndrome from Turner Syndrome?

<p>Presence of additional X chromosome (D)</p> Signup and view all the answers

Which of the following management strategies is recommended for patients with Klinefelter Syndrome?

<p>Regular echocardiograms (C)</p> Signup and view all the answers

What is the prevalence of Klinefelter Syndrome in male live births?

<p>1 in 600-800 (A)</p> Signup and view all the answers

Which feature is NOT commonly associated with Klinefelter Syndrome?

<p>Puffy dorsum of hands and feet (C)</p> Signup and view all the answers

What is the most common mechanism of aneuploidy?

<p>Non-disjunction (D)</p> Signup and view all the answers

Which chromosomal abnormality involves the addition of genetic material?

<p>Trisomy (A)</p> Signup and view all the answers

What percentage of Trisomy 21 cases are attributed to non-disjunction?

<p>95% (D)</p> Signup and view all the answers

Which feature is NOT commonly associated with Trisomy 18 (Edward's Syndrome)?

<p>Polydactyly (A)</p> Signup and view all the answers

In a balanced translocation carrier, what is expected regarding their offspring's genetic material?

<p>Have a risk of inheriting unbalanced chromosome complements (C)</p> Signup and view all the answers

What is the life expectancy for most newborns diagnosed with Trisomy 13 (Patau Syndrome)?

<p>Majority die within the first year (D)</p> Signup and view all the answers

Which of the following describes a characteristic feature of Down syndrome?

<p>Upslanting palpebral fissures (C)</p> Signup and view all the answers

Which chromosomal condition is characterized by a reduced total chromosome number due to the fusion of chromosome arms?

<p>Robertsonian translocation (A)</p> Signup and view all the answers

Which of the following is a tertiary prevention strategy for aneuploidy?

<p>Surgical intervention (A)</p> Signup and view all the answers

What is the recurrence risk for females who are carriers of a balanced translocation?

<p>10-15% (C)</p> Signup and view all the answers

Flashcards

Klinefelter Syndrome

A genetic condition in males characterized by an extra X chromosome (47,XXY).

Turner Syndrome

A genetic condition in females characterized by the loss of an X chromosome (45,X).

Aneuploidy

An abnormal number of chromosomes.

Non-disjunction

Error in meiosis where chromosomes fail to separate.

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Klinefelter karyotype

Genetic makeup showing an extra X chromosome, e.g., 47, XXY.

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Turner karyotype

Genetic makeup showing a missing X chromosome, e.g., 45, X.

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Mosaicism

Presence of more than one cell line with different chromosome numbers.

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Gynecomastia

Development of breast tissue in males.

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Infertility

Inability to conceive a child.

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Diagnosis of Sex Chromosome Abnormalities

Confirmation of condition through karyotyping and/or DNA testing.

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Chromosome Deletion

Loss of genetic material from a chromosome, leading to partial monosomy.

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Trisomy

Having an extra copy of a chromosome (47 instead of 46).

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Down Syndrome

Genetic disorder caused by Trisomy 21.

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Robertsonian translocation

Fusion of two acrocentric chromosomes, typically 13, 14, 15, 21, or 22.

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Balanced translocation carrier

Individual with a translocation but no loss or gain of genetic material, typically phenotypically normal, but offspring at risk of unbalanced chromosome complement.

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Trisomy 13 (Patau Syndrome)

Genetic disorder causing severe abnormalities and often early death.

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Trisomy 18 (Edwards Syndrome)

Genetic disorder associated with severe developmental problems and a short lifespan.

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Karyotyping

A laboratory technique which maps chromosomes.

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Study Notes

Sex Chromosome Abnormalities

  • Aneuplodies of X or Y chromosomes produce less severe phenotype compared to those with autosomal aneuplodies
  • More compatible with life than autosomal aneuplodies
  • Result from non-disjunction during meiosis (maternal & paternal)

Klinefelter Syndrome

  • Prevalence: 1 in 600-800 male live births
  • Karyotypes:
    • 47, XXY
    • 48, XXXY, 49, XXXXY
    • 46, XYY, 47, XXY (mosaic)
  • Prenatal features:
    • Often normal
  • Pubertal features:
    • Average to tall height (long legs)
    • Mild, often normal
  • Adult features:
    • Gynecomastia, small/firm testes
    • Infertile, decreased libido, reduced beard growth, osteoporosis, muscle weakness, thromboembolic disease, obesity, diabetes

Turner Syndrome

  • Prevalence: 1 in 2500-3000 live female births
  • Karyotype:
    • 45, X
    • 45, X, Xq (mosaicism)
    • 46, X, Xq (isochromosome)
  • Prenatal features:
    • Increased nuchal translucency/edema
    • Puffy dorsum of hands & feet
    • Nuchal skin fold / webbed neck
    • Cardiac abnormalities
  • Postnatal features:
    • Short stature (average 145cm)
    • Cardiovascular (coarctation of aorta, bicuspid aortic valve, VSD)
    • Conductive defects, hypertension
    • Renal abnormalities (kidney agenesis)
    • Skeletal abnormalities (increased carrying angle, CDH, scoliosis)
  • Other:
    • Delayed puberty
    • Endocrine complications (obesity, hypothyroidism)
    • Deafness, recurrent otitis media
    • Squints, cataracts, nystagmus
  • Cognitive:
    • 10% are significantly delayed (all karyotypes)
    • 70% will have visual spatial problems, problems with maths, driving, social function

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Description

Explore the various sex chromosome abnormalities, including Klinefelter and Turner syndromes. This quiz covers genetic causes, prevalence rates, karyotypes, and clinical features associated with these conditions. Test your knowledge on how these anomalies affect individuals at different life stages.

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