Cytogenetics — Flashcards

Flashcard 1: _____ is a process in which metaphase chromosomes are stained, ordered, and numbered according to morphology, size, arm-length ratio, and banding pattern

Answer: Karyotyping

Flashcard 2: In _____, 24 distinct fluorescent colours are made by mixing 5 fluorophores and each chromosome is identified by a unique colour.

Answer: Multicolour FISH

Flashcard 3: A ring chromosome is denoted by the symbol _____ in human genetics.

Answer: r

Flashcard 4: _____ is chromosomal rearrangement between non-homologous chromosomes

Answer: Reciprocal translocation

Flashcard 5: The banding technique used for dicentric chromosomes is _____ banding.

Answer: C

Flashcard 6: Robertsonian translocation leading to Down's syndrome will involve the fusion of long arms of chromosomes _____ and 21

Answer: 14

Flashcard 7: Translocation in Philadelphia chromosome is best studied by using _____

Answer: FISH (Fluorescence In Situ Hybridization)

Extra: Philadelphia chromosome: t(9;22)(q34;q11). - **FISH** is the preferred method for detecting the translocation as it can be done on both metaphase and interphase cells. - **RT-PCR** is the most sensitive method, primarily used for monitoring Minimal Residual Disease (MRD). - **SKY** (Spectral Karyotyping) is typically reserved for complex chromosomal rearrangements where multiple chromosomes are involved.

Flashcard 8: _____ syndrome is a disease from abnormal biogenesis of lysosome-related organelles with impaired melanosome maturation and absent dense bodies in thrombocytes.

Answer: Hermansky Pudlak

Flashcard 9: _____ syndrome is most commonly characterized by a 47,XXY karyotype

Answer: Klinefelter