Klinefelter and Jacobs Syndrome

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50 Questions

Which chromosomal abnormality is characterized by short stature, webbing of the neck, and widely spaced nipples?

Turner Syndrome

What is the sex chromosome constitution of individuals with Trisomy X?

XXX

Which chromosomal abnormality is linked to an increased risk for Alzheimer Disease by age 40?

Trisomy 21

In which condition is the nondisjunction of chromosomes usually caused by the mother's egg?

Trisomy 21

Which chromosomal abnormality is more common in females than in males?

Trisomy X

What is a common physical characteristic of individuals with Klinefelter Syndrome?

High-pitched voice

Which genetic disorder is characterized by the presence of an additional X chromosome in males?

Klinefelter Syndrome

What is a common feature of individuals with Cri du chat syndrome?

Low birth weight

Which genetic disorder is caused by the deletion of the short arm of chromosome 5?

Cri du chat syndrome

Which chromosomal abnormality leads to females having only one X chromosome?

Turner Syndrome

What is the karyotype of an individual with Turner Syndrome?

XO

Which condition results in an individual having an extra X chromosome, making it XXY?

Klinefelter Syndrome

What is the chromosomal abnormality seen in Down Syndrome?

47, XX, +21

What is the estimated prevalence of Klinefelter Syndrome?

1 in 500 live male births

Which of the following conditions is associated with not being able to produce sperm?

Klinefelter Syndrome

Which chromosome abnormality is characterized by an extra copy of chromosome 21?

Trisomy 21

In Trisomy X, how many total sex chromosomes does a female have?

XXX

What is the default sex of a child in the absence of the Y chromosome?

Female

Which test is done at 8-10 weeks of pregnancy, is less invasive than amniocentesis, and provides faster results?

CVS (chorionic villus sampling)

Which chromosomal abnormality is associated with a missing or incomplete X chromosome in females?

Turner Syndrome

What is the main type of allergy that affects adults and can impact the skin and organs?

Systemic allergies

Which type of allergy mainly affects children and manifests as skin rash?

Systemic allergies

What is required to sensitize a patient in Type I allergies?

Repeated exposure to large doses of allergen

What causes the clinical manifestations in Type I allergies?

Histamine effect

Which type of allergy involves hypersensitivities that can destroy or alter cells?

Type II allergies

What is the mechanism through which Type III allergies cause harmful effects?

Complement activation

Which type of allergic reaction involves urticaria, angioedema, bronchospasm, and hypotension?

Food dependent exercise induced anaphylaxis

Local reactions usually disappear after the first 4 weeks of therapy in which type of allergy?

Food dependent exercise induced anaphylaxis

Which type of allergy is now a significant cause of anaphylaxis due to increased use of gloves following AIDS precautions?

Latex allergy

Which clinical condition is characterized by features like flushing, pruritus, abdominal pain, diarrhea, hypotension, syncope, and musculoskeletal pain?

Mastocytosis

Patients with allergies to avocados and bananas are most likely to develop anaphylaxis in which type of allergy?

Food dependent exercise induced anaphylaxis

Which type of allergy is less common now that it is genetically engineered?

Insulin allergy

What type of immune reaction involves specifically sensitized T lymphocytes and does not involve antibodies?

Type IV allergy

Which of the following is an example of a Type IV allergy?

Tuberculin reaction

What is the classification of a graft that involves transplanting tissue from a different species to a human?

Xenograft

In which autoimmune disease do autoantibodies form immune complexes that lead to chronic inflammation and joint destruction?

Rheumatoid arthritis

What symptom is associated with Systemic Lupus Erythematosus (SLE)?

Butterfly rash across the nose

Which of the following is a common manifestation of contact dermatitis, such as an allergic reaction to poison ivy?

Skin rash and itching

What is the primary mechanism involved in the reaction described in the scenario?

Type I hypersensitivity

Which diagnostic test is mentioned in the text as a way to screen for allergic diseases?

Skin testing

What symptom was NOT mentioned as part of the clinical presentation of exercise-induced anaphylaxis?

Headache

Which factor is indicative of a heightened response to allergens in newborns?

IgE levels over 1.0 IU

Which control substances are used in skin testing for allergies?

Saline and histamine

What is the main immunoglobulin involved in Type I hypersensitivity reactions like those described in the scenario?

IgE

What is the first step in the two-step process that causes someone to become allergic to a substance?

Formation of IgE antibodies

What body part is highlighted as the most common site for the development of allergic inflammatory disorders?

Eye

Which type of treatment for acute rheumatoid arthritis (RA) involves using heat and moderate activity?

Heat therapy

What is recommended as first aid for injury-related inflammation?

Keeping the limb elevated

What is the role of memory B cells in the allergic response?

Production of specific IgE antibodies on re-stimulation

Which factor delays the healing process according to the text?

Clean wound

Learn about Klinefelter and Jacobs Syndrome, including symptoms like gynecomastia, small testes, and mental impairments. Understand the genetic basis of these syndromes and how they are diagnosed. Explore the unique characteristics of each syndrome.

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