Authors Address Jacobsen Syndrome, Which Essay

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Large size is a primary expressing symptom of Beckwith-Wiedemann syndrome. The authors also used imaging analysis hardware and software, as well as using the patented CpGenome DNA modification kit for further testing.

Explain how the article relates to genetics topics addressed in lecture.

The article relates to a wide range of genetics topics including chromosomal abnormalities, alleles, the use of fluorescence in chromosomal analysis testing, cytogenetic abnormalities, genotypes, phenotypes, karyotypes, and the process of chromosomal rearrangement or deletion de novo.

Explain the significance of the species chosen for use in the study.

The species chosen for use in the study was human; significance does not need to be explained. The authors did need to receive consent from the parents for all diagnostic procedures, which were performed within the ethical guidelines of the Institutional Review Board of the Hannover Medical School.

Explain the most significant conclusions presented in the article.

One of the most significant conclusions presented in the article is that new methods of chromosomal analyses such as array-CGH and single nucleotide polymorphism (SNP) chips can be especially helpful in situations where Jacobsen, Beckwith-Wiedemann, and other congenital syndromes are suspected. However, the authors admit that further research is required to discover the specific genes on 11q, which have been destroyed and subsequently cause the physical and physiological features of Jacobsen syndrome.

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Second, this case is unique in that it revealed an unusual inherited chromosomal arrangement. In this case, it was paternal inversion on p15q24. The parental testing in this study is a reminder of the importance of routine parental genetic testing, for the risk factors associated with syndromes like Jacobsen and Beckwith-Wiedemann. It is implied that both parental and prenatal testing might be useful, especially as Beckwith-Wiedemann leads often to terminal illness.

Finally, the authors urge physicians to more routinely use FISH analyses and subtelomeric probes for 5q, 7q, 9p, and 11q -- long end sites of potential chromosomal abnormalities. High-resolution karyotypes plus trigonocephaly sequences should also be used when a child is expressing symptoms. These symptoms include facial dysmorphia such as very wide bridge of the nose, "carp-shaped upper lip," and "posterior rotated low-set ears," (959). These observable features of the syndrome should lead to the routine use of the genetic testing mentioned above, as well as any new emerging procedures used to test for Jacobsen since the publication….....

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