Which of the following are responsibilities of the transcription proofreader?

Which of the following are responsibilities of the transcription proofreader?

In short, proofreading services include:

• Checking for grammatical and textual errors.
• Filling in any words or phrases missed by the transcriptionists.
• Formatting document according to the client’s specifications.
• Performing final quality check on the document.

How do proofreading enzymes work?

DNA polymerases are the enzymes that build DNA in cells. During DNA replication (copying), most DNA polymerases can “check their work” with each base that they add. This process is called proofreading. Polymerase uses 3′ to 5′ exonuclease activity to remove the incorrect T from the 3′ end of the new strand.

What are the 4 types of chromosomal mutations?

Certain mutagens may also induce Chromosomal mutations. Chromosome mutations affect large segments of DNA containing many genes. There are four different types of chromosomal mutations: Deletions, Translocations, Duplications and Inversions (pictured below).

What is the most common syndrome?

Down Syndrome: Down syndrome is the most commonly diagnosed chromosomal disorder, which affects 1 in every 691 babies born in the United States. Individuals with Down syndrome have a defect in chromosome 21.

What is the difference between chromosomal and gene mutation?

Genetic alternations include chromosomal abnormalities and gene mutations. Chromosomal abnormalities generally arise during cell division. Gene mutations are permanent changes in DNA gene sequence. They can arise during normal DNA replication or in response to environmental factors.

Which are examples of chromosomal mutations?

Some of the most common chromosomal abnormalities include:

• Down’s syndrome or trisomy 21.
• Edward’s syndrome or trisomy 18.
• Patau syndrome or trisomy 13.
• Cri du chat syndrome or 5p minus syndrome (partial deletion of short arm of chromosome 5)
• Wolf-Hirschhorn syndrome or deletion 4p syndrome.

What are the 3 main types of mutations?

There are three types of DNA Mutations: base substitutions, deletions and insertions. Single base substitutions are called point mutations, recall the point mutation Glu —–> Val which causes sickle-cell disease. Point mutations are the most common type of mutation and there are two types.

What are the 3 types of chromosomal mutations?

The three major single-chromosome mutations: deletion (1), duplication (2) and inversion (3). The two major two-chromosome mutations: insertion (1) and translocation (2).

What are some examples of chromosomal disorders?

Examples of chromosomal abnormalities include Down syndrome, Trisomy 18, Trisomy 13, Klinefelter syndrome, XYY syndrome, Turner syndrome and triple X syndrome.

What are the signs and symptoms of chromosomal abnormalities?

Symptoms depend on the type of chromosomal anomaly, and can include the following:

• Abnormally-shaped head.
• Below average height.
• Cleft lip (openings in the lip or mouth)
• Infertility.
• Learning disabilities.
• Little to no body hair.
• Low birth weight.
• Mental and physical impairments.

What is the most common chromosomal disorder?

The most common type of chromosomal abnormality is known as aneuploidy, an abnormal chromosome number due to an extra or missing chromosome. Most people with aneuploidy have trisomy (three copies of a chromosome) instead of monosomy (single copy of a chromosome).

What is Jacobsen syndrome?

Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder.

What is Pallister Killian syndrome?

Pallister-Killian mosaic syndrome is a rare chromosomal disorder caused by the presence of at least four copies of the short arm of chromosome 12 instead of the normal two.

What is Johanson Blizzard syndrome?

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, dental …

What does Jacobsen Syndrome look like?

Symptoms. The signs and symptoms of Jacobsen syndrome can vary. Most affected people have delayed development of motor skills and speech; cognitive impairment; and learning difficulties. Behavioral features have been reported and may include compulsive behavior; a short attention span; and distractibility.

What is the life expectancy of someone with Jacobs Syndrome?

The average prevalence was 14.2 47,XYY persons per 100,000, which is reduced compared to the expected 98 per 100,000. Their median age at diagnosis was 17.1 years. We found a significantly decreased lifespan from 77.9 years (controls) to 67.5 years (47,XYY persons).

Are low set ears a sign of autism?

The number of microcephaly (small head size) cases was interesting since recent studies have suggested an increased rate of macrocephaly (large head size) in autism. The most frequent Craniofacial Defects included Low Set Ears, Partial Hearing Loss, Abnormal Teeth and Dysmorphic or Asymmetric Facies*.

What is Langer giedion syndrome?

Abstract. Langer-Giedion syndrome is a very uncommon autosomal dominant genetic disorder caused by the deletion of chromosomal material. It is characterized by multiple bony exostosis, short stature, mental retardation, and typical facial features.

Is small hands a sign of autism?

Small feet and normal-to-large hands also were observed in the autism group. Children with autism had a significant reduction in interpupillary distance, but not intercanthic distance or head circumference.

What are small ears a sign of?

Small ears indicate respect, discipline and affection. If the lower part of the ear is thick, such people are likely to be emotional. People having small ears will be shy and introverts. These traits will be more pronounced in persons having long and narrow ears.

What are low-set ears a sign of?

They are present in many congenital conditions. Specifically, low-set ears are defined as outer ears positioned two or more standard deviations lower than the population average. Low-set ears can be associated with conditions such as: Down syndrome….

Low-set ears
Specialty	Medical genetics