You are a third year rushing through the hospital to get coffee for your intern (and thus hopefully an "honors"). As you pass the pediatric ward, you hear a cat meow. "That's weird," you think, "why would someone bring a pet cat into the hospital?"
Suddenly, you hear the voice of your intern. "Yes, the chart indicates she was five pounds when she was born, and she hasn't been growing normally since. We'll have to monitor her cognitive, speech, motor, and behavioral progress as they may be delayed. Let me measure her head. Hmm, it's a little small."
The mother asks, "But what is wrong with her?"
The intern says, "I believe she has a syndrome called..." At that moment, he glances out the room and sees you. "Oh, this is the medical student on the team." You awkwardly introduce yourself. Well, you didn't get coffee and you were caught eavesdropping; you better impress your intern by knowing the diagnosis.
Challenge: What chromosome in this baby would be abnormal?
Related Questions:
1. What would a small head be called?
2. What is this syndrome called?
Note: The answer to this case might be posted a little later than usual. But it's a hard one - good luck.
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2 comments:
micro-cephaly?
cri du chat
with a small 5p head.
Cat's Cradle
There are many nonspecific symptoms - microcephaly, cognitive delay (which can lead to mental retardation), low birth weight, poor growth. However, the sound of the cat meowing is diagnostic of Cri du Chat syndrome. This is a rare genetic disorder, found in all ethnic groups and slightly more common in females, due to a partial deletion in the short arm of chromosome 5. Problems with the larynx and nervous system lead to the infant sounding like a meowing kitten.
Sources: Wikipedia, UpToDate.
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