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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?

To identify the presence of ovaries or undescended testes Signup and view all the answers

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

Amniocentesis Signup and view all the answers

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

To analyze chromosome structure Signup and view all the answers

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

It results from an autosomal dominant trait on chromosome 17. Signup and view all the answers

Which characteristic is typically seen in an infant with NEUROFIBROMATOSIS?

Development of café-au-lait spots Signup and view all the answers

What distinguishes the diagnostic criteria for pigmented nevi in NEUROFIBROMATOSIS?

They are larger than 1 cm in diameter. Signup and view all the answers

What is the most common motor disability of childhood?

Cerebral Palsy Signup and view all the answers

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

Abnormal brain development or damage to the developing brain Signup and view all the answers

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

Black children Signup and view all the answers

What is the main cause of Turner Syndrome?

Missing or partially missing X chromosome Signup and view all the answers

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

Early menopause Signup and view all the answers

What is a typical approach in managing Turner Syndrome?

Testosterone replacement therapy for hypogonadism Signup and view all the answers

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

Underdevelopment or absence of uterus and upper two-thirds of the vagina Signup and view all the answers

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

During adolescence due to absence of secondary sexual characteristics Signup and view all the answers

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

Psychological support, education, and counseling Signup and view all the answers