Maternal semi finals
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Questions and Answers

Which procedure provides a genome-wide snapshot of an individual's chromosomes?

  • Laparoscopy surgery
  • Chorionic villus sampling
  • Drawing a specimen of blood
  • Karyotyping (correct)

How is the diagnosis of external sexual organs in a child with abnormal development typically made?

  • By karyotype analysis (correct)
  • Through chorionic villus sampling
  • By drawing a specimen of blood
  • By laparoscopy surgery

What underlying cause is associated with Klinefelter Syndrome (XXY)?

  • Neurological disorders
  • Loss of kidney function (correct)
  • Kidney stones formation
  • Heart abnormalities

What is the purpose of laparoscopy surgery in the context of determining gender in a child with abnormal sexual organ development?

<p>To identify the presence of ovaries or undescended testes (A)</p> Signup and view all the answers

Which prenatal diagnostic procedure can be performed to detect chromosome abnormalities?

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

What is the primary purpose of drawing a specimen of blood in the diagnostic process?

<p>To analyze chromosome structure (D)</p> Signup and view all the answers

What is the genetic basis of NEUROFIBROMATOSIS (VON RECKLINGHAUSEN DISEASE)?

<p>It results from an autosomal dominant trait on chromosome 17. (C)</p> Signup and view all the answers

Which characteristic is typically seen in an infant with NEUROFIBROMATOSIS?

<p>Development of café-au-lait spots (B)</p> Signup and view all the answers

What distinguishes the diagnostic criteria for pigmented nevi in NEUROFIBROMATOSIS?

<p>They are larger than 1 cm in diameter. (D)</p> Signup and view all the answers

What is the most common motor disability of childhood?

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

What causes Cerebral Palsy (CP) according to the text?

<p>Abnormal brain development or damage to the developing brain (B)</p> Signup and view all the answers

Which population group has a higher prevalence of Cerebral Palsy according to the text?

<p>Black children (B)</p> Signup and view all the answers

What is the main cause of Turner Syndrome?

<p>Missing or partially missing X chromosome (B)</p> Signup and view all the answers

Which of the following is a common symptom of Turner Syndrome?

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

What is a typical approach in managing Turner Syndrome?

<p>Testosterone replacement therapy for hypogonadism (D)</p> Signup and view all the answers

How is Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) characterized?

<p>Underdevelopment or absence of uterus and upper two-thirds of the vagina (A)</p> Signup and view all the answers

When is the diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) typically made?

<p>During adolescence due to absence of secondary sexual characteristics (B)</p> Signup and view all the answers

What is a key aspect of managing Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)?

<p>Psychological support, education, and counseling (A)</p> Signup and view all the answers

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