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#chromosomes

46 public questions tagged with this topic.

Which chromosomal abnormality leads to Klinefelter’s syndrome?

Klinefelter’s syndrome is caused by the presence of an extra X chromosome (47, XXY). This follows from NCERT principle where the relation explains the outcome clearly for students in simple steps.

Ref: NCERT Biology Textbook for Class XI and XII (Botany section), Chapter: Morphology and Anatomy of Flowering Plants, Topic: Plant structure and tissue systems.

XX males occur due to presence of:

XX male syndrome occurs frequently due to aberrant recombination during paternal meiosis where SRY-containing segment of short arm Y translocates onto distal Xp or autosome. Offspring inheriting recombined chromosome are karyotypically XX but carry functional SRY capable of initiating Sox9 activation and testis determination despite absence of other Y genes such as AZF needed for spermatogenesis. Individuals develop phenotypic males with testes, male internal ducts and external genitalia though typically azoospermic and sterile. Incidence around 1 in 20,000 males reveals sufficiency of SRY for

Ref: Gilbert, Developmental Biology, 12th ed., Chapter 6: XX males due to SRY translocation.

Individual chromosomes are clearly visible in which phase?

Visibility of individual chromosomes under light microscope depends on degree of condensation regulated by condensin complexes and histone modifications across cell cycle. Interphase chromatin exists as 10 nanometer beads-on-string fiber further folded into 30 nanometer fiber and looped domains anchored to nuclear matrix, occupying distinct chromosome territories where active transcription and replication occur, but overlapping extensively making individual chromosomes unresolvable. Entry into M phase, triggered by cyclin B-CDK1 rising activity, activates condensin I and II ATPases that extrud

Ref: Alberts et al., Molecular Biology of the Cell, 7th ed., Chapter 17: Mitotic Chromosome Condensation.

What happens during prometaphase?

Prometaphase is transitional stage converting interphase nuclear architecture to mitotic spindle structure, initiated by rising cyclin B-CDK1 activity. CDK1 phosphorylates lamins A/C and B at serine residues within tail domain, causing depolymerization of filamentous lamina and fragmentation of nuclear envelope into vesicles merging with endoplasmic reticulum. Condensed chromosomes consisting of two sister chromatids embraced by cohesin are released into cytoplasm. Concurrently, kinetochores assembled at centromeres containing CENP-A nucleosomes fully mature, forming outer plate with KMN netwo

Ref: Alberts et al., Molecular Biology of the Cell, 7th ed., Chapter 17, Prometaphase Events.