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Chapter: 10 / Q: 10.43
All the following are examples of microdeletion syndromes EXCEPT
Chapter: 10 / Q: 10.44
An 18-month-old female child had been diagnosed as Turner syndrome(45,XO), FISH analys is shows Y chromosome mosaicism
Chapter: 10 / Q: 10.45
All the following are recognized features of Turner syndrome EXCEPT
Chapter: 10 / Q: 10.46
All the following are characteristicfeatures of fragile X chromosome of a 3-year-old male child EXCEPT
Chapter: 11 / Q: 11.1
Inborn errors of metabolism (IEM) are hereditary biochemical disorders caused by single-gene mutations that result in alteration of
Chapter: 11 / Q: 11.2
Inborn errors of metabolism (IEM) are hereditary biochemical disorders caused by single-gene mutations that encode specific proteins
Chapter: 11 / Q: 11.3
All the following are widely used modalities for treatment of inborn errors of metabolism (IEM) EXCEPT
Chapter: 11 / Q: 11.4
A 28-day-old girl presented with lethargy, poor feeding, and repeated vomiting for last 5 days;IV fluid and empiric alantibiotics were started
Chapter: 11 / Q: 11.5
You suspect a metabolic problem in a 30-day-oId girl presented With poor feeding, vomiting lethargy, and convulsion
Chapter: 11 / Q: 11.6
A 3-year-old boy presented with history of hyperactivity and mild mental retardation. Past history revealed repeated projectile vomiting with normal abdominal sonography
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