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Genetic Counseling
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Zoltán Papp, Valéria Váradi, Júlia Hajdú
The family history and pedigree are the basis for providing clients referred for genetic evaluation and counseling with a diagnosis, risk assessment, education, and psychosocial support. Accuracy, detail, and relevance are paramount. The genetic counseling student must develop a mastery of this fundamental task and employ standardized pedigree symbols and nomenclature that enhance the utility of the information obtained. The family history and pedigree have come a long way since the era of Francis Galton. An accurate and complete family history and pedigree lay the foundation for the highest standards of patient care and genetic counseling. They are tools now clearly viewed as having an essential role in all aspects of health care (37–41).
An Approach to Inherited Pulmonary Disease
Published in Stephen D. Litwin, Genetic Determinants of Pulmonary Disease, 2020
For a few rare autosomal recessive phenotypes the mode of inheritance is not In doubt despite a paucity of pedigree data. Most of these phenotypes are caused by severe deficiencies of an enzyme. The parents of an affected individual show no clinical manifestations of the phenotype, but each has an amount of the relevant enzyme which is intermediate between normal levels and severe deficiency. The genetic inference that each parent is heterozygous for a defective gene is supported by the finding of similar intermediate levels in some of their unaffected children, who are presumed to be heterozygous like the parents.
LRs Considering Relatives as Alternate Contributors
Published in Jo-Anne Bright, Michael D. Coble, Forensic DNA Profiling, 2019
Jo-Anne Bright, Michael D. Coble
Alleles that have descended from a single ancestral allele are described as being identical by descent (IBD) (Weir, 1996). Consider the single locus pedigree in Figure 5.1. Males in the pedigree are indicated by squares and females are indicated by circles. The grandfather in generation I is a 10,13 genotype at this particular locus, and the grandmother is homozygote 13,13. Their biological son (generation II) is a 10,13 and his biological son (generation III) is genotype 10,15. The 10 allele is said to be IBD between the three males within the pedigree. In addition, the 15 allele from the mother (generation II) and her biological son (generation III) are IBD.
Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients
Published in Ophthalmic Genetics, 2021
Takaaki Hayashi, Yusuke Murakami, Kei Mizobuchi, Yoshito Koyanagi, Koh-Hei Sonoda, Tadashi Nakano
Three patients, a male proband II-1 (JU1175), his unaffected mother (I-1, JU1196), his affected uncle (patient I-2, JU1234), and his affected male cousin (patient II-2, JU1904) in a Japanese family were ophthalmologically examined at The Jikei University Hospital or Kyushu University Hospital (Figure 1b). The pedigree pattern was consistent with X-linked recessive inheritance. Comprehensive ophthalmic examination included decimal best-corrected visual acuity (BCVA), slit-lamp examination, funduscopy, fundus autofluorescence imaging (FAF) (Optos California, Optos PLC, Dunfermline, UK), and optical coherence tomography (OCT) (Cirrus, Carl Zeiss Meditec AG, Dublin, CA, USA, Spectralis SD-OCT, Heidelberg Engineering, Heidelberg, Germany). Full-field electroretinography (ERG) using a light-emitting diode built-in electrode (LE-4000, Tomey, Nagoya Japan) was recorded in accordance with the protocols of the International Society for Clinical Electrophysiology of Vision (8). A long-duration ERG with 100-ms stimulus duration was also recorded following previously reported protocols (9–11). The ERG responses of the patients were compared to age-matched control individuals (n = 4, mean age, 68 years) with high myopia (mean axial length, 30.18 mm).
Neonatal epidermolysis bullosa: lessons to learn about genetic counseling
Published in Journal of Dermatological Treatment, 2021
Shuk Ching Chong, Kam Lun Hon, Liz Y. P. Yuen, Paul Cheung Lung Choi, W. G. Gigi Ng, Tor W. Chiu
A term Chinese female infant presented with recurrent blisters over bilateral lower limbs. At birth, she had no blister but was mildly affected with the development of multiple small bullosa which involved mainly distal extremities starting from a few days of life. Her mother and the maternal grandmother both had blistering disease since childhood and mother also had nail dystrophy. The blistering condition was self-limiting and not causing major infection in both proband’s mother and her grandmother. There was a total loss of toenails noted in patient’s mother. Multiple small old scarrings were noted on the mother’s hands and feet. She had no fixed contracture in any joints. Maternal grandmother only had blisters when she was young and she did not have nail dystrophy. A proband whole exome sequencing was performed and revealed a known glycine mutation in the COL7A1 gene (NM_000094.3 c.6082G > A p.Gly2028Arg). Mother also has the same mutation while maternal grandmother is mosaic with the condition. The phenotype observed in maternal grandmother was milder than that of the proband. The mutation is inherited in autosomal dominant fashion in this pedigree. The level of mosaicism is reflected by the severity of the clinical phenotype.
Inherited retinal degeneration current genetics practices – a needs assessment
Published in Ophthalmic Genetics, 2020
Sydney Strait, Rebecca Loman, Lindsay Erickson, Meghan DeBenedictis
The desired population was ophthalmologists and optometrists who see patients with IRDs. The use of social media has its own limitations. There are approximately 18,000 (2012) ophthalmologist and 44,000 (2020) optometrists in the U.S (12,13). It is unclear how many of these individuals have and use a Twitter account, were reached by this method of dispersal, or how many of them see patients with IRDs. The survey population was limited in size and location of respondents, possibly leading to limited diversity potential. Additionally, the study did not measure the knowledge of genetics for the respondents. There were providers who indicated they take pedigrees, explain inheritance patterns, or order genetic testing. However, the study did not determine the accuracy of the genetics related practice.