18 Questions
Which procedure provides a genome-wide snapshot of an individual's chromosomes?
Karyotyping
How is the diagnosis of external sexual organs in a child with abnormal development typically made?
By karyotype analysis
What underlying cause is associated with Klinefelter Syndrome (XXY)?
Loss of kidney function
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
Which prenatal diagnostic procedure can be performed to detect chromosome abnormalities?
Amniocentesis
What is the primary purpose of drawing a specimen of blood in the diagnostic process?
To analyze chromosome structure
What is the genetic basis of NEUROFIBROMATOSIS (VON RECKLINGHAUSEN DISEASE)?
It results from an autosomal dominant trait on chromosome 17.
Which characteristic is typically seen in an infant with NEUROFIBROMATOSIS?
Development of café-au-lait spots
What distinguishes the diagnostic criteria for pigmented nevi in NEUROFIBROMATOSIS?
They are larger than 1 cm in diameter.
What is the most common motor disability of childhood?
Cerebral Palsy
What causes Cerebral Palsy (CP) according to the text?
Abnormal brain development or damage to the developing brain
Which population group has a higher prevalence of Cerebral Palsy according to the text?
Black children
What is the main cause of Turner Syndrome?
Missing or partially missing X chromosome
Which of the following is a common symptom of Turner Syndrome?
Early menopause
What is a typical approach in managing Turner Syndrome?
Testosterone replacement therapy for hypogonadism
How is Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) characterized?
Underdevelopment or absence of uterus and upper two-thirds of the vagina
When is the diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) typically made?
During adolescence due to absence of secondary sexual characteristics
What is a key aspect of managing Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)?
Psychological support, education, and counseling
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