List of top Pediatrics Questions on Genetics asked in NEET (PG)

A child with coarse facial features and developmental delay is found to have a deficiency of $\alpha$-L-iduronidase on enzyme testing. Which substances are expected to accumulate in this disorder?

A family pedigree reveals multiple individuals with symptoms such as progressive eye movement limitation, retinal pigment changes, and disturbances in cardiac conduction. Based on these findings and the inheritance pattern, which of the following is the most probable diagnosis?

Which of the following disorders follows autosomal recessive inheritance pattern?

Achondroplasia shows which type inheritance

Now-a-days Down syndrome Is referred to as.

Webbed neck, short stature, low posterior hairline. Diagnosis-

True hermaphroditism karyotype:

In Modern obstetrics, for sensitized Rhnegative mother what should be done to evaluate the condition of the mother ?

25-year-old man presents for a routine physical examination. The patient is tall and on examination, he was found to have an early diastolic murmur. His family pedigree is given below. Which of the following is the mode of inheritance by which the disease is likely to be transmitted ?

What condition of the mother is associated with the following fetal anomaly ?

5-year male child present to the clinic with H/O recurrent infection On examination he was found to have rashes shown below in the image. On routine blood investigation, low platelet count was found what will be the diagnosis ?

Zewellger syndrone is due to absence of

Which apolipoprotein is responsible for Alzeihmers disease

Type-I hyperlipoproteinemia is characterized by

Glanzmann thrombasthenia is due to:

Apoptotic gene is:

Which one of the following is an autosomal recessive disorder?

Krabbe’s disease is:

Diagnostic test for neurosyphilis:

True about Fragile X syndrome is

MRP 2 associated with which of the following?