MID - Autosomal Aneuploidy (Quiz)

Autosomal Aneuploidy

An abnormal number of non-sex chromosomes.

Nondisjunction

The process where chromosomes fail to separate properly during cell division.

Mosaicism

The condition where some cells in an individual have a normal chromosome count and others do not.

Trisomy 21

The most common autosomal aneuploidy, characterized by an extra copy of chromosome 21.

Trisomy 18

A severe autosomal aneuploidy involving an extra copy of chromosome 18.

Trisomy 13

An autosomal aneuploidy associated with an extra copy of chromosome 13.

Monosomy

The loss of one copy of a chromosome.

Amniocentesis

A prenatal diagnostic test that involves sampling the fluid surrounding the fetus.

Chorionic Villus Sampling (CVS)

A prenatal diagnostic test that involves taking a sample of placental tissue.

Karyotyping

A visual representation of an individual's chromosomes, used to detect abnormalities.

Errors in chromosome separation

The primary cause of autosomal aneuploidy.

Trisomy 23

NOT a common type of autosomal aneuploidy mentioned in the text.

Mild to moderate intellectual disability and distinct facial features

Typical characteristics of individuals with Trisomy 21.

Clenched fists with overlapping fingers and rocker-bottom feet

Associated with Edwards Syndrome (Trisomy 18).

Holoprosencephaly

Condition where the brain hemispheres fail to separate properly, associated with Trisomy 13.

Mosaic form

The typical occurrence of Trisomy 8 (Warkany Syndrome 2).

Extremely rare and usually lethal

Description of Monosomy 21.

Genetic counseling

Important for parents with a family history of aneuploidy.

False

Autosomal aneuploidy affects the sex chromosomes.

True

Nondisjunction can occur during meiosis I or meiosis II.

False

Trisomy 21 is the least common autosomal aneuploidy.

True

Advanced maternal age is a known risk factor for Trisomy 21, 18, and 13.

False

There is a cure for Edwards Syndrome.

False

Polydactyly is a common feature of Trisomy 18.

False

Full Trisomy 8 is usually survivable to adulthood.

False

Non-invasive prenatal testing (NIPT) is a definitive diagnostic test for aneuploidy.

True

Karyotyping can detect partial aneuploidy like deletions or duplications.

False

Management of autosomal aneuploidy aims to correct the chromosomal abnormality.

True

A 40-year-old woman is at an increased risk of having a child with Trisomy 21.

True

There is a slightly increased recurrence risk for a couple that has a child with Trisomy 18.

Trisomy 13

Condition identified from a karyotype showing 47 chromosomes with an extra chromosome 13.

True

Families with balanced translocations involving chromosome 13 are at increased risk for Trisomy 13.

False

NIPT definitively means the baby will have Down Syndrome.

Trisomy 21

Most likely autosomal aneuploidy for a child born with a flat facial profile and upward-slanting eyes.

Trisomy 18

Most likely autosomal aneuploidy for an infant with severe intellectual disability and clenched fists.

Trisomy 13

Most likely autosomal aneuploidy for an infant born with a cleft lip and microphthalmia.

Mosaic Trisomy 8

Condition indicated by 47 chromosomes with an extra chromosome 8 in some cells.

True

Genetic counseling is important for a couple that has had one child with Trisomy 21.