A wrongful birth case was recently brought before a court in which a child with smith-lemli-opitz syndrome was born to apparently healthy parents. This syndrome is characterized by a cluster of birth defects including cleft palate, and an array of problems with the reproductive and urinary organs. Originally considered by their physician as having a nongenetic basis, the parents decided to have another child, who was also born with smith-lemli-opitz syndrome. In the role of a genetic counselor, instruct the court about what occurred, including the probability of the parents having two affected offspring, knowing that the disorder is inherited as a recessive trait.

Sagot :

By notifying the parents that birth defects were not genetic, the attending physician most presumably misdiagnosed the very first child's smith-lemli-opitz syndrome.

What exactly is the Smith-Lemli-Opitz syndrome?

Smith-Lemli-Opitz syndrome is a neurocognitive disorder that affects several body systems.

This disorder is distinguished by distinctive facial characteristics, a limited brain size (microcephaly), cognitive impairment as well as learning disabilities, and behavioral difficulties.

In the given circumstance;

  • Given the birth of a second baby of Smith-Lemli-Opitz disorder, both parents have been most expected carriers for the syndrome's recessive gene.
  • In that case, each of their children has a 25% chance of being affected.

Thus, the chance of having two affected children from heterozygous parents is 0.25 × 0.25 = 0.0625, or a little more than 6%.

To know more about genetic disorders, here

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