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Double balanced translocations are particularly rare and the risk of a fetus with an unbalanced chromosomal anomaly is greater than for single translocation carriers. In this present case, we describe an interesting family history which included three generations. A couple, married for 4 years, was referred to the genetic clinic due to infertility...
Context in source publication
Context 1
... Report. A couple married for 4 years was referred to the genetic clinic due to infertility and family chromosome anomalies. A GTG-band chromo- some analysis indicated 46,XX normal and 45,XY, t(3;18)(q11;ptel)t(13;14)(q10; q10) karyotypes. The male partner (IV-5) (Figure 1) was phenotypically normal with normal intelligence and healthy other than infertility. His sister (IV-8) who experienced re- peated miscarriages was found carried he same double translocation. The FISH analysis was done again and confirmed the karyo-type. For FISH, WC 13 blue, WC 14 red, (Poseidon DNA Probes, Kreatech Biotechnol- ogy, Amsterdam, The Netherlands); WCP 3, spectrum orange, WCP 18, spectrum green, WCP (Whole Chro- mosome Paint) (Vysis Inc., Downers Grove, IL, USA) were used. Other members of the family were called for chromosome analysis and the proband's mother (III-6), who had two miscarriages and three healthy children, carried the same double translocation. The proband's single sister (IV-10) (Figure 2) carried only reciprocal translocation, while the proband's grand- father (II-4) (Figure 3) only carried a Robertsonian translocation. The mother (III-6) had a brother and sister who both died from congenital anomalies at Figure 4). Analysis of the proband's sperm found a normal 50 million/mL sperm count, however, morphologic evaluation using the Kruger method found 99.0% teratospermia with head anomalies. Using the intra cy- toplasmic sperm injection (ICSI) method on the pro- band's wife, two late divided embryos were obtained from seven eggs and transferred on the third day; however, β-human chorionic gonadotropin (β-HCG) had not increased on the 12th day after transfer. Ge- netic counseling was provided to the proband's wife and sister; in light of PGD, in vitro fertilization (IVF) was presented as an ...
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Background
The Genome Reference Consortium (GRC) has according to its own statement the “mission to improve the human reference genome assembly, correcting errors and adding sequence to ensure it provides the best representation of the human genome to meet basic and clinical research needs”. Data from GRC is included in genome browsers like UCSC (U...
The human BON-1 and QGP-1 cell lines are two frequently used models in pancreatic neuroendocrine tumor (PNET) research. Data on the whole exome genetic constitution of these cell lines is largely lacking. This study presents the first whole exome profile of the BON-1 and QGP-1 cell lines. Cell line identity was confirmed by short tandem repeat prof...
Structural chromosomal rearrangements occur commonly in general population. Individuals that carry balanced translocations are at risk of having an unbalanced offspring; therefore, the frequency of translocation in couple with recurrent spontaneous abortions (RSA) is higher thanthat in general population. The constitutional t(11;22) translocation i...
Citations
... It is important to determine the degree of harm that can be caused by the failure to share information, and seek reliable and valid evidence about whether the sharing of information can help prevent harm before making a decision about genetic information which could violate the principle of medical confidentiality [23,26,31]. Although the degree of potential risk of harm may change with time, as the field of medical genetics advances, the findings currently available indicate that the likelihood of adults appearing phenotypically normal but carrying balanced chromosome anomaly is 1/500 in the general population, and 80% of these cases are hereditary [29,32]. Consequently, it is possible to discuss certain risks, such as having a baby with an unbalanced chromosome anomaly (10%-15%) [30,32], spontaneous miscarriage (25%-50%), infertility, or recurrent miscarriage in relatives. ...
... Although the degree of potential risk of harm may change with time, as the field of medical genetics advances, the findings currently available indicate that the likelihood of adults appearing phenotypically normal but carrying balanced chromosome anomaly is 1/500 in the general population, and 80% of these cases are hereditary [29,32]. Consequently, it is possible to discuss certain risks, such as having a baby with an unbalanced chromosome anomaly (10%-15%) [30,32], spontaneous miscarriage (25%-50%), infertility, or recurrent miscarriage in relatives. However, these risks can be prevented with prenatal or preimplantation cytogenetic diagnostic tests [30,33,34]. ...
Background
When considering the principle of medical confidentiality, disclosure of genetic information constitutes a special case because of the impact that this information can have on the health and the lives of relatives. The aim of this study is to explore the attitudes of Turkish physicians and patients about sharing information obtained from genetic tests.
Methods
The study was carried out in Kocaeli, Turkey. Participants were either paediatricians and gynaecologists registered in Kocaeli, or patients coming to the genetic diagnosis centre for karyotype analysis in 2008. A self-administered paper questionnaire was given to the physicians, and face-to-face structured interviews were conducted with patients. We used a case study involving a man who was found to be a balanced chromosome carrier as a result of a test conducted after his first baby was born with Down's syndrome. However, he refused to share this information with his wife or his siblings. Percentages of characteristics and preferences of the participants were calculated, and the results were analysed using Kruskal-Wallis test.
Results
A total of 155 physicians (68% response rate) and 104 patients (46% response rate) were participated in the study. Twenty-six percent of physicians and 49% of patients believed that genetic information belongs to the whole family. When participants were asked with whom genetic information should be shared for the case study, most of the physicians and patients thought the physician should inform the spouse (79%, 85%, respectively). They were less likely to support a physician informing a sibling (41%, 53%, respectively); whereas, many thought the testee has an obligation to inform siblings (70%, 94%, respectively).
Conclusions
Although Turkey’s national regulations certainly protect the right of privacy of the testee, the participants in our study appear to believe that informing the spouse, who is not personally at risk of serious damage, is the physician’s responsibility, while informing siblings, is the testee’s responsibility. Therefore we believe that opening ethical discussions with clinicians about the sharing of genetic information, establishing guidelines for practice and sharing these guidelines and the reasons behind them with the wider population, will help to pre-empt ethical dilemmas.
We report a 4-month-old male proband with a history of prominent forehead, hypertelorism, ear abnormalities, micrognathia, hypospadias, and multiple cardiac abnormalities. Initial microarray analysis detected a concurrent 7p21.3-p22.3 duplication and 13q33.2-q34 deletion indicating an unbalanced rearrangement. However, subsequent conventional cytogenetic studies only revealed what appeared to be a balanced t(12;20)(q24.33;p12.2). Fluorescence in situ hybridization (FISH) using chromosome-specific subtelomere probes confirmed the presence of an unbalanced der(13)t(7;13)(p21.3;q33.2) and balanced t(12;20)(q24.33;p12.2), both of maternal origin. In addition to our unique clinical findings, this case highlights the benefits and limitations of both conventional cytogenetic studies and microarray analysis and how FISH complements each methodology.
