How to Pronounce 22q13 Deletion Syndrome
Definition, meaning, and phonetic spelling
22q13 Deletion Syndrome Pronunciation
TWEN-tee-too KYOO THIR-teen deh-LEE-shun SIN-drohm
Stressed syllable in ALL CAPS · hyphens separate syllables
Syllable Breakdown
TWEN
stress here
tee
too KYOO THIR
teen deh
LEE
stress here
shun SIN
drohm
7 syllables
What is 22q13 Deletion Syndrome?
A chromosomal condition (also called Phelan-McDermid syndrome) caused by deletion of the terminal portion of chromosome 22q — specifically loss of the SHANK3 gene — characterized by global developmental delay, absent or severely delayed speech, hypotonia, and autistic features. It is considered one of the most common known genetic causes of autism spectrum disorder.
Questions About 22q13 Deletion Syndrome
How do you pronounce '22q13 Deletion Syndrome'?
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Say it like this: TWEN-tee-too KYOO THIR-teen deh-LEE-shun SIN-drohm. The stress falls on the first syllable of 'deletion' (deh-LEE-shun), which is where your voice gets a little louder. The number part is simply 'twenty-two' followed by 'Q thirteen.'
What does '22q13' mean in this term?
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'22q13' refers to a specific location on a human chromosome—chromosome 22, in the region labeled 'q13.' The 'q' just indicates which arm (or section) of the chromosome we're talking about. Think of it like an address for where the genetic change occurs.
What does 'deletion' mean in '22q13 Deletion Syndrome'?
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In genetics, 'deletion' means that a piece of DNA is missing or has been removed. In this case, a segment of chromosome 22 is not there when it should be. It comes from the Latin word 'delere,' which means 'to destroy' or 'to remove.'
What does 'syndrome' mean?
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'Syndrome' refers to a group of symptoms or signs that occur together and form a recognizable pattern. It comes from Greek words meaning 'to run together.' When doctors use the word 'syndrome,' they're describing a collection of related features that usually appear as a package.
What's another name for 22q13 Deletion Syndrome?
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It's also called Phelan-McDermid syndrome, named after the doctors who first described it. Some people use the shorter abbreviation 'PMS' or refer to it as 'SHANK3-related disorder,' since the deletion involves the SHANK3 gene.
How do you break '22q13 Deletion Syndrome' into syllables?
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Here's the breakdown: TWEN-tee (22) + KYOO (q) + THIR-teen (13) + deh-LEE-shun (deletion) + SIN-drohm (syndrome). When saying the number part aloud, just pronounce it like any regular number: 'twenty-two, q, thirteen.'
What's a common mistake when pronouncing this term?
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A common error is stressing the wrong syllable in 'deletion'—people sometimes say 'DEL-uh-shun' instead of the correct 'deh-LEE-shun.' Remember that the stress lands on the second syllable (LEE), not the first.
Can you use '22q13 Deletion Syndrome' in a sentence?
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Sure! Here's an example: 'The geneticist explained that the patient has 22q13 Deletion Syndrome, which is why they referred the family to a genetic counselor.' This sentence shows how a healthcare provider might mention the diagnosis when discussing a patient's genetic condition.