Chromosomal Aberrations Quiz

True (A)

Paracentric inversion and Pericentric inversion.

<p>Duplication</p> Signup and view all the answers

<p>A broken part attaches to a non-homologous chromosome. (C)</p> Signup and view all the answers

<p>Deficiency = Loss of a segment of chromosome Duplication = Presence of a segment in more than two copies Inversion = Segment is reversed in sequence Translocation = Segments are moved to non-homologous chromosomes</p> Signup and view all the answers

<p>A segment of a chromosome detaches and attaches to a completely different chromosome. (B)</p> Signup and view all the answers

<p>False (B)</p> Signup and view all the answers

<p>True (A)</p> Signup and view all the answers

<p>A karyotype is an image of a person's chromosomes arranged in homologous pairs according to size and centromere location.</p> Signup and view all the answers

<p>Loss of a segment between the telomere and centromere.</p> Signup and view all the answers

<p>X</p> Signup and view all the answers

<p>Down syndrome = Extra copy of chromosome 21 Klinefelter syndrome = Presence of an extra X chromosome in males Turner syndrome = Missing all or part of an X chromosome Jacob syndrome = Presence of an extra Y chromosome</p> Signup and view all the answers

<p>Down syndrome (A)</p> Signup and view all the answers

<p>False (B)</p> Signup and view all the answers

<p>Edwards syndrome is characterized by the presence of an extra copy of chromosome 18.</p> Signup and view all the answers

<p>Trisomy 21 (C)</p> Signup and view all the answers

<p>True (A)</p> Signup and view all the answers

<p>Flattened facial appearance</p> Signup and view all the answers

<p>hypothyroidism</p> Signup and view all the answers

<p>Trisomy 21 = 95% of cases with three copies of chromosome 21 Translocation = Extra chromosome 21 attached to a different chromosome Mosaic = Some cells have three copies of chromosome 21</p> Signup and view all the answers

<p>Age of the mother, particularly over 35 years (D)</p> Signup and view all the answers

<p>False (B)</p> Signup and view all the answers

<p>reflux</p> Signup and view all the answers

<p>Klinefelter syndrome (D)</p> Signup and view all the answers

<p>False (B)</p> Signup and view all the answers

<p>Gynecomastia</p> Signup and view all the answers

<p>webbed</p> Signup and view all the answers

<p>Short height (B)</p> Signup and view all the answers

<p>Klinefelter syndrome = Extra X chromosome in males Turner syndrome = Missing or partially missing X chromosome Jacobs syndrome = Extra Y chromosome in males Down syndrome = Trisomy 21</p> Signup and view all the answers

<p>False (B)</p> Signup and view all the answers

<p>X0</p> Signup and view all the answers

<p>Severe intellectual disability (A)</p> Signup and view all the answers

<p>False (B)</p> Signup and view all the answers

<p>An extra copy of chromosome 18</p> Signup and view all the answers

<p>born</p> Signup and view all the answers

<p>It can lead to milder effects depending on cell distribution. (A)</p> Signup and view all the answers

<p>False (B)</p> Signup and view all the answers

<p>Hypotonia or motor tics</p> Signup and view all the answers

<p>Full Edwards' syndrome = Most severe effects, extra chromosome 18 in all cells Mosaic Edwards' syndrome = Extra chromosome present in some cells, milder effects Partial Edwards' syndrome = A section of the extra chromosome 18 present Trisomy 18 = Another name for Edwards syndrome</p> Signup and view all the answers

<p>Cleft lip or cleft palate (B)</p> Signup and view all the answers

<p>False (B)</p> Signup and view all the answers

<p>Nearly 80% do not survive past their first year</p> Signup and view all the answers

<p>decreased</p> Signup and view all the answers

<p>Edwards syndrome = Overlapping fingers Patau syndrome = Heart abnormalities present at birth</p> Signup and view all the answers

<p>Increased risk of developing cancer (C)</p> Signup and view all the answers

<p>True (A)</p> Signup and view all the answers

<p>A single artery in the umbilical cord</p> Signup and view all the answers

Changes in the structure or number of chromosomes.

Changes in the total number of chromosomes, like trisomy (extra chromosome) or monosomy (missing chromosome).

Changes in the structure of a chromosome, such as deletions, duplications, inversions, or translocations.

Loss of a chromosome segment.

Part of a chromosome is repeated.

Chromosome segment is reversed.

Chromosome segment moves to a different chromosome.

Recessive allele behaves like a dominant one due to a deletion of a masking dominant gene.

The exchange of chromosome segments between non-homologous chromosomes.

Normal exchange of genetic material between similar chromosomes during meiosis, creating diversity.

Ordered picture of chromosomes, arranged by size, used to identify chromosomal abnormalities.

Genetic condition resulting from an extra copy of chromosome 21.

Genetic condition in males with an extra X chromosome.

Genetic condition in females with a missing or incomplete X chromosome.

Genetic condition characterized by an extra Y chromosome in males.

Flat face, epicanthal folds, protruding tongue, hypotonia, delays in speech and attention.

About half of children born with Down syndrome have a heart defect.

Children with Down syndrome may have gastroesophageal reflux (acid reflux), celiac disease (gluten intolerance), or hypothyroidism (underactive thyroid).

People with Down syndrome have an increased risk of developing Alzheimer's disease earlier in life (50s-60s).

The most common type of Down syndrome, where each cell has three copies of chromosome 21.

A less common type, where an extra chromosome 21 is attached to another chromosome.

A less common type, where some cells have three copies of chromosome 21, and some have two.

The risk of having a baby with Down syndrome increases with maternal age (especially 35 years or older).

Individuals with Klinefelter syndrome often experience reduced testosterone, smaller testes, less body and facial hair, gynecomastia (breast tissue development), infertility, osteoporosis, and learning difficulties.

A genetic condition affecting only females, caused by a missing or partially missing X chromosome, resulting in only one X chromosome (XO) instead of XX.

Individuals with Turner syndrome often exhibit short stature, underdeveloped ovaries, heart defects, webbed neck, low hairline, low-set ears, and facial features like drooping eyelids and a small jaw.

Individuals with Jacobs syndrome typically have no unusual physical features, normal testosterone production, and normal male sexual development, often able to father children.

Another name for Jacobs syndrome, which reflects the extra Y chromosome in the typical 46 chromosome count.

Individuals with XYY syndrome may exhibit features like increased height, testicular atrophy, low muscle tone, large teeth, flat feet, curved pinky fingers, wide-set eyes, and spinal curvature.

People with XYY syndrome have a higher risk of learning disabilities, speech and language delays, and developmental delays in motor skills.

A genetic disorder caused by an extra copy of chromosome 18, leading to severe developmental problems and health issues.

A severe form of Edwards syndrome where all cells have an extra copy of chromosome 18, typically leading to early death.

A milder form of Edwards syndrome where only some cells have the extra chromosome 18, resulting in varied symptoms and potentially longer lifespan.

During pregnancy, Edwards syndrome can be detected by signs like reduced fetal activity, a single umbilical cord artery, a small placenta, and excessive amniotic fluid.

Babies with Edwards syndrome often exhibit low muscle tone, low-set ears, heart and lung issues, intellectual disabilities, small size, overlapping fingers, clubfeet, and a weak cry.

A chromosomal disorder caused by having an extra copy of chromosome 13, resulting in severe intellectual disabilities and physical abnormalities.

Patau syndrome is characterized by heart defects, brain abnormalities, cognitive issues, underdeveloped organs, cleft lip or palate.

Only about 20% of babies with Patau syndrome survive past their first year, with increased risks of cancer and seizures later on.

The failure of chromosome pairs to separate correctly during cell division, leading to disorders like Trisomy 13 and Trisomy 18.