By Christine M. Houser
Often, info in evaluate books can bring up as many questions because it solutions. This interferes with the examine strategy, as the learner needs to both search for more information or pass forward with no actually comprehending what she or he has learn. in its place, Pediatric Genetics and Inborn error of Metabolism: A virtually Painless Review offers bite-size chunks of knowledge that may be learn and processed quickly, assisting newcomers to stick lively whereas learning and to choose up new details the 1st time they learn it. This book's query and solution structure enables self-testing or examine with a companion or a bunch. The layout additionally allows dipping into the booklet in the course of a couple of minutes of downtime on the health center or place of work. Pediatric Genetics and Inborn blunders of Metabolism: A virtually Painless Review is a short and straightforward option to grasp those tough subject matters and is acceptable for these learning for the pediatric board examination, training physicians brushing up their talents and any busy clinician who desires to research extra approximately those issues whereas at the go.
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Additional info for Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review
1. Balanced reciprocal translocations Two nonhomologous (not the same) chromosomes exchange segments. Amount of material is the same, and the individual is usually fine. Gametes produced by an individual with a balanced reciprocal translocation are often abnormal, however. ) 2. Inversions A section of a chromosome flips around so that it is facing the opposite direction in the chromosome. The individual is usually fine, and gametes are often fine, but occasionally abnormal. 3. Robertsonian translocations Robertsonian translocations are a special case of unequal reciprocal translocation.
2) 1. Microcephaly 2. High, arched palate What sort of cognitive function is typical for Cri-du-chat patients? ) What is abnormal about the muscles of Cri-du-chat patients? Hypotonic (Persian cats don’t exercise much, so their muscles are hypotonic) Are Cri-du-chat patients typically tall or short? Short A short, floppy baby, with a round face and small head – featuring a flat nasal bridge & widely spaced eyes – is likely to have what genetic disorder? 5p-/Cri-du-chat Are cardiac problems frequent in Cri-du-chat patients?
Chromosomal disorders What sort of genetic disorders are mainly associated with advanced paternal age? New mutations If a couple has a child with a genetic disorder, and advanced paternal age was a likely factor, what can you tell the couple about the probability of recurrence in future siblings? We can’t predict it, currently What is the hallmark of X-linked inheritance on the family pedigree? No male-to-male transmission What is the classic example of an X-linked dominant disorder? Incontinentia pigmenti (whorls of pigment, often with dental & oculomotor abnormalities) What will you see if a disorder is inherited as an X-linked dominant disorder?