The Exam and the Test That Sort Syndromic from Isolated
Take the reading one piece at a time. For each piece: read it once, underline the sentence that says what happens, then look up any word in the list. Tap a word to see its definition.
Piece 1 of 2
The geneticist has two instruments. The dysmorphology exam is a structured, head-to-toe search for associated anomalies: measurements (head size, eye spacing, jaw size) and a deliberate look at face, eyes, ears, mouth and lip (pits?), heart (murmur?), limbs and digits, skin, and genitalia, plus a real family history and growth measures; finding even one associated anomaly raises the chance of a syndrome. The chromosomal microarray (CMA) is a laboratory test that scans the whole genome for copy-number variants, stretches of DNA that are missing (deletions) or duplicated, and can catch invisible problems like the 22q11.2 deletion that no inspection would reveal.
Piece 2 of 2
How often CMA finds a clinically significant variant, split by whether the cleft is isolated or comes with other anomalies: all CL/P overall about 8%; cleft palate cases about 25%; non-isolated cleft (cleft plus other anomalies) about 33%; isolated cleft lip alone close to 0%. (The 0% figure is from a single prenatal cohort and reflects that series, so read it as 'close to 0%,' not an absolute guarantee.) Context: about 70% of CL/P is nonsyndromic, so most cleft babies are in the low-yield, isolated category. Mateo's structured dysmorphology exam found no associated anomalies, placing him in the low-yield, isolated-appearing group.
Reading the Research
- Skim the title and abstract first to get the gist.
- Circle the one sentence that states the main claim.
- Box the evidence the authors give for that claim.
- Mark one sentence that confuses you, and move on.
Now put it together: In one or two sentences, say what this whole reading is telling you about Mateo. Then go back to the lesson and fill in the guided notes.