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Basic genetics and patterns of inheritance
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Genetic counseling is an important part of the practice of medical genetics. The field of genetics is unique in that a diagnosis of a genetic disorder in an individual has an impact on his or her entire family. Multiple family members and their present or future offspring may be at risk for the genetic disorder as well. Genetic counseling involves the explanation of the manifestations of the disorder, the natural history and treatment, the inheritance pattern, the risks of recurrence, and the methods of prenatal and postnatal diagnosis. The genetic counselor also helps the family make the best possible adjustment to the disorder and the risks of recurrence. This often involves referral to a support organization through which the family can make contact with other affected individuals. The vast majority of genetic counselors and clinical geneticists seek to provide nondirective counseling, whereby information about the disorder and the recurrence risk is given in an unbiased and neutral way, and the family makes decisions about reproductive options in accordance with their own beliefs and values.
Practice exam I: Answers
Published in Euan Kevelighan, Jeremy Gasson, Makiya Ashraf, Get Through MRCOG Part 2: Short Answer Questions, 2020
Euan Kevelighan, Jeremy Gasson, Makiya Ashraf
CF = autosomal recessive, partner = carrier. General population risk 1/22.Risk to this pregnancy 1/88. Pedigree and urgent referral to medical geneticist.Screen patient for CF. If screen negative then risk to pregnancy 1/880. Screen positive then risk 1/4 – offer prenatal diagnosis.
Genetics
Published in Rachel U Sidwell, Mike A Thomson, Concise Paediatrics, 2020
Rachel U Sidwell, Mike A Thomson
Genetics is a rapidly advancing and fascinating field of medicine, which has particular relevance in paediatrics. Increasingly, medical genetics is becoming central to our understanding of many diseases, and not just rare disorders. A large proportion of paediatric admissions are due to genetic diseases, as are a large proportion (50%) of paediatric deaths.
Applying whole exome sequencing in a consanguineous population with autism spectrum disorder
Published in International Journal of Developmental Disabilities, 2023
Watfa Al-Mamari, Ahmed B. Idris, Khalid Al-Thihli, Reem Abdulrahim, Saquib Jalees, Muna Al-Jabri, Ahlam Gabr, Fathiya Al Murshedi, Adila Al Kindy, Intisar Al-Hadabi, Zandrè Bruwer, M. Mazharul Islam, Abeer Alsayegh
The clinic receives referrals from all over the country and accepts children less than 14 years of age. Patients evaluated through the clinic generally follow the diagnostic flowchart depicted in Figure 1. ASD cases were diagnosed based on the Diagnostic Statistical Manual, Fifth Edition (DSM-5) criteria (American Psychiatric Association 2013). A multidisciplinary team, headed by a senior developmental paediatrician, utilized Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule to confirm the diagnosis of ASD. Patients were further clinically characterized by the contribution of a medical geneticist. Clinical and demographic variables were evaluated for their impact on the diagnostic yield. In our study, multiplex ASD refers to families in which multiple individuals were affected, while simplex ASD refers to families in which only a single individual was affected. Syndromic ASD was assigned to patients with a clinically defined pattern of systemic abnormalities and a neurobehavioral phenotype that could include ASD (Fernandez and Scherer 2017). Consanguinity was defined as the parents of the proband being related as second cousins or closer (Bittles 2001).
Clinical aspects of infertile 47,XYY patients: a retrospective study
Published in Human Fertility, 2019
Parnaz Borjian Boroujeni, Marjan Sabbaghian, Ahmad Vosough Dizaji, Shabnam Zarei Moradi, Navid Almadani, Faranak Mohammadpour Lashkari, Mohamad Reza Zamanian, Anahita Mohseni Meybodi
Among the study group, there was one patient with 47,XYY karyotype who had a chromosome structural abnormality, suggesting that structural abnormalities in addition to numerical abnormalities may play critical roles in the impairment of spermatogenesis. 47,XYY men with normal sperm counts can potentially induce pregnancy in their partner spontaneously (Kim et al., 2013); however, for some 47,XYY men who have infertility problems, ART techniques such as ICSI or IVF are suggested. For these patients, medical genetics counselling and PGD testing have been recommended in order to recognize the potential risks for their offspring (Gonzalez-Merino et al., 2007; Kim et al., 2013).
Whose Genome? Which Genetics?
Published in The American Journal of Bioethics, 2023
Genetics, in other words, does not deliver neutral results that then get (mis)interpreted in terms of our moral, political, and social commitments; rather, those commitments also influence what research questions we find relevant, what conditions medical genetics should seek therapeutic options for, which clinical applications are true possibilities and so deserve funding and attention, and which should be taken off the table—they influence, in other words, which genetics gets done. The papers in this issue are rich with ideas about some of what have become the key “ELSI” (“ethical, legal, and social issues”) questions about genetics—return of secondary findings, use of racial categories in research, public engagement with novel genetic technologies, equity and access to the benefits of medical genetics, and more. But in addition, the papers also address (both directly and obliquely) broader issues about how genetics is shaped by our moral, social, political, and biological ideas. And crucially, not just how genetics is shaped, but by whom—whose interests, whose commitments, whose views of human biology, and whose needs determine what work gets done. Alasdair MacIntyre, in a different context, noted that disagreements about justice are often rooted in fundamental disagreements about practical rationality (MacIntyre 1988). We cannot just ask “What is justice?”, we have to ask “Whose justice?” and “Which (conception of practical) rationality (are we arguing from within in settling this question)?”2 I wish to suggest here that we read the papers in this issue as dealing with, and contributing to, a parallel set of questions about disagreements over (as the title of this comment puts it) “Whose genome?” and “Which genetics?”