DOCTORS'
Medical Case Studies
DOCTORS'
Medical Case Studies
Genetic disorders
Genetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due in part to genetic disorders, they can also be caused by environmental factors. Most disorders are quite rare and affect one person in every several thousands or millions. Some types of recessive gene disorders confer an advantage in the heterozygous state in certain environments.
Genetic disorders - List of case studies
- Cerebral Atrophy
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has been relatively slow over three years. Paraneoplastic disorders have been specifically considered, but in the absence of systemic ill ... then it may be necessary to obtain the remainder of the genetic tests for dominant disorders as well as for the recessive disorder ...
- Chromosome 22 micro-deletion syndrome
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1) Is the psychiatric pathology connected to the genetic problem? 2) Do you agree with the indications put forward by the ... with social interaction, autism and autistic spectrum disorders are also common. The incident of psychiatric disorders , ...
- Psychomotor retardation due to spinal amyotrophy
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in type II SMA M Pane et al. Neuromuscular Disorders 18 (2008) 536–540 . Albuterol M. Kinali et al. ... research towards the cure for muscular dystrophy and other genetic diseases. FTELE has created and manages four research Institutes ...
- Possible Anorexia, Vomiting, Failure to Gain Weight and Linear Growth Retardation
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– normal renal function – normal metabolic disorders – normal Brain MRI – normal Barium contrast study ... • Cockayne Syndrome negative • Check of many genetic disorders done in the US (see attached) found nothing as well. ...
- Feeding problems, vomiting and short stature in prematurely born child
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underwent allergies, endocrynology and genetic workup regarding her short stature (as described below) that was ... Renal function – normal. Metabolic disorders – normal. Brain MRI – normal. Barium ... Cockayne Syndrome - negative. Check of many genetic disorders done in the US (see attached) found nothing as well. ...
- Retinitis Pigmentosa
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the patient to see a specialist in retinal degenerative disorders for more detailed evaluation of her condition. There are a number of genetic abnormalities that have been reported to cause this condition and ...
- List of Examinations
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type Charcot Marie Tooth disease Check of genetic disorders Checking Endocrine abnormalities Checking thoracic ...