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1. Which of the following procedures is used as a routnetchniquefor b) Fluoresce

ID: 207458 • Letter: 1

Question

1. Which of the following procedures is used as a routnetchniquefor b) Fluorescence in Situ Hybridization (FISH) 2. What is the most ikely clinical diagnosis for this patient given the sex chromosome abnormality shown in the above karygram? ) Down syndrome d Edwards syndrome e) P syndrome 3. Complex disease traits, such as epilepsy, are MOST lycaused by? b) single gene mutations and environmental tactors c) muiple gene vaniations Eplepsy" refers to approximately how many dierent human selnure b) 10-20 e) More than 40 protein degradation markers (typically CA repeats) occur in the hman genome every? 8. ALOD score of 3.0 is equivalent to a p-value oft e) P 10e

Explanation / Answer

ANSWER 1- C) G Banding

This is achieved by halting the mitosis in metaphase stage by adding Giemsa stain. The chromosomes in metaphase stage are observed in the karyotyping.

ANSWER 2 - b) Klinefelter's syndrome

This is because the karyotype shows one extra X chromosome resulting in male with very low sperm count. This is known as the Klinefelter's syndrome.

ANSWER 3 - d) Multiple genetic variation and environmental factors

This is because epilepsy is a multifactorial complex chronic disease.

ANSWER 4 - e) More than 40

This is because around 60 types of focal seizures are categorised as epileptic seizures.