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613 Questions
A 6-year-old boy with eczematoid rash, abnormal face, and prominent maxilla complains from deterioration in school performance
Medicine
2022-09-11
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A 3-year-old boy presented with history of hyperactivity and mild mental retardation. Past history revealed repeated projectile vomiting with normal abdominal sonography
Medicine
2022-09-11
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You suspect a metabolic problem in a 30-day-oId girl presented With poor feeding, vomiting lethargy, and convulsion
Medicine
2022-09-11
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A 28-day-old girl presented with lethargy, poor feeding, and repeated vomiting for last 5 days;IV fluid and empiric alantibiotics were started
Medicine
2022-09-11
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All the following are widely used modalities for treatment of inborn errors of metabolism (IEM) EXCEPT
Medicine
2022-09-11
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Inborn errors of metabolism (IEM) are hereditary biochemical disorders caused by single-gene mutations that encode specific proteins
Medicine
2022-09-11
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Inborn errors of metabolism (IEM) are hereditary biochemical disorders caused by single-gene mutations that result in alteration of
Medicine
2022-09-11
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All the following are characteristicfeatures of fragile X chromosome of a 3-year-old male child EXCEPT
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2022-09-11
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All the following are recognized features of Turner syndrome EXCEPT
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2022-09-11
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An 18-month-old female child had been diagnosed as Turner syndrome(45,XO), FISH analys is shows Y chromosome mosaicism
Medicine
2022-09-11
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All the following are examples of microdeletion syndromes EXCEPT
Medicine
2022-09-11
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One of the common chromosomal deletions which can lead to retinoblastoma is
Medicine
2022-09-11
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Robertsonian translocations involve 2 acrocentric chromosomes that fuse near the centromeric region with a subsequent loss of the short arms
Medicine
2022-09-11
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613
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