Question 1

What is the Meaning of Aneuploidy?

Accepted Answer

Aneuploidy refers to the presence of an abnormal number of chromosomes in a cell, deviating from the typical diploid count for a species. This condition involves either the gain or loss of one or more individual chromosomes, rather than a complete set.

Question 2

What is the Context of Aneuploidy?

Accepted Answer

This chromosomal alteration primarily arises during gamete formation or early embryonic development, impacting the genetic blueprint of an organism. It is a fundamental concept within human genetics, influencing reproductive health and the viability of offspring.

Question 3

What is the Significance of Aneuploidy?

Accepted Answer

Clinically, aneuploidy is a leading cause of early pregnancy loss and congenital anomalies, presenting significant implications for patient counseling and family planning. Its presence can determine the prognosis for certain developmental conditions and inform therapeutic strategies.

Question 4

What is the Mechanism of Aneuploidy?

Accepted Answer

The primary mechanism underlying aneuploidy is non-disjunction, an error occurring during cell division where homologous chromosomes or sister chromatids fail to separate properly. This aberrant segregation results in daughter cells receiving an unequal distribution of genetic material.

Question 5

What is the Application of Aneuploidy?

Accepted Answer

Detection of aneuploidy is a critical component of reproductive medicine and prenatal care, utilized in procedures such as preimplantation genetic testing for aneuploidy in IVF cycles and non-invasive prenatal screening. It also holds relevance in oncology for characterizing certain tumor types.

Question 6

What is the Metric of Aneuploidy?

Accepted Answer

Aneuploidy is routinely assessed through cytogenetic and molecular techniques, including conventional karyotyping, fluorescence in situ hybridization, and advanced genomic analyses like chromosomal microarray and next-generation sequencing. These methods provide precise quantification of chromosomal number and structure.

Question 7

What is the Risk of Aneuploidy?

Accepted Answer

The presence of aneuploidy carries substantial clinical risks, including increased rates of spontaneous abortion, stillbirth, and the manifestation of specific genetic syndromes such as Down syndrome or Turner syndrome. Management often involves careful genetic counseling and individualized clinical oversight.

Aneuploidy

Meaning

Context

Significance

Mechanism

Application

Metric

Risk

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