By Anthony R. Gregg MD, Joe Leigh Simpson MD
Genetic Screening and Counseling is reviewed during this factor of Obstetrics and Gynecology Clinics, visitor edited through Drs. Anthony R. Gregg and Joe Leigh Simpson. professionals within the box have come jointly to pen articles on modern Genetics Counseling: New Frontiers and demanding situations, baby Screening, SMA provider Screening, Fragile X, Ashkenazi Jewish Screening within the twenty first Century, Thrombophilia in Obstetric perform, Microarrays within the perform of Obstetrics and Gynecology, melanoma Genetic Screening, and Cystic Fibrosis.
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Extra resources for Genetic Screening and Counseling, An Issue of Obstetrics and Gynecology Clinics (The Clinics: Internal Medicine)
24 Prior degeneration of alpha motoneurons in the spinal cord, which results in progressive muscle weakness and paralysis. The weakness is almost always symmetric and progressive. The predominant pathologic feature of autopsy studies of patients with SMA is loss of motoneurons in the ventral horn of the spinal cord and in brainstem motor nuclei. 3,4 Type I SMA (Werdnig-Hoffmann disease) is characterized by severe, generalized muscle weakness and hypotonia at birth or before 6 months. Death from respiratory failure usually occurs within the first 2 years.
Green NS, Pass KA. Neonatal screening by DNA microarray: spots and chips. Nat Rev Genet 2005;6:147–51. 41. Saxena A. Issues in newborn screening. Genet Test 2003;7:131–4. 42. Pyatt RE, Mihal DC, Prior TW. Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy. Clin Chem 2007;53:1879–85. 43. Dankert-Roelse JE, Merelle ME. Review of outcomes of neonatal screening for cystic fibrosis versus non-screening in Europe. J Pediatr 2005;147(3):S15–20. 44. Khoury MJ, McCabe LL, McCabe ER.
The same effect can be seen if an individual with a relatively rare mutation is part of a group that is reduced from a once large population to a small group because of loss of members. Again, a once rare mutation will no longer be rare as the denominator (the total members in the group) has now severely contracted. Historically, Jews fell into both categories, as they were often forced to move to new locations or to endure pogroms that greatly lessened their numbers. 2 The founder effect is not limited to the AJ population and likely accounts for the higher rate of TaySachs disease (TSD) in French Canadians, although different mutations account for the disease in this population.
Genetic Screening and Counseling, An Issue of Obstetrics and Gynecology Clinics (The Clinics: Internal Medicine) by Anthony R. Gregg MD, Joe Leigh Simpson MD