PubMed · 11663370
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John C Bennett. 1973-01-08. Avoid oppressive laws!. https://pubmed.ncbi.nlm.nih.gov/11663370/
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The recent discoveries of genes involved in deafness open new options for families and individuals with hearing loss. Our aim was to learn if parents of children with hearing loss will benefit from these new possibilities. A total of 139 parents answered questionnaires aimed at evaluating their intentions as well as their reasons to opt for or against genetic testing and prenatal diagnosis for hearing loss. A very high interest (87%) in genetic testing was found among Israeli Jewish parents of deaf and hard-of-hearing children. Although the Jewish population in Israel is very diverse in its religious beliefs, this high interest was similar across all religious sectors (secular, traditional, orthodox, and ultraorthodox); however, some of the reasons for undertaking such a test were very different between them. Reasons related to family planning and prenatal diagnosis were significantly less important to parents from the ultraorthodox sector, but the possibility to utilize genetic testing for matchmaking the children with hearing loss and their hearing siblings was an important factor in motivating them to undertake the test. Parents from all religious sectors wished testing would shed light on the cause of the hearing loss. We conclude that genetic testing would be welcomed by a wide range of communities, including those that usually do not apply for genetic counseling and testing, if it is offered in accordance with their cultural norms and beliefs.
Grebe-Quelce-Salgado chondrodystrophy is an autosomal recessive non-lethal skeletal dysplasia. Affected individuals have normal head, neck, and trunk skeleton, relatively normal humeri and femora, short and deformed radii, ulnae, tibiae, and fibulae, and severe abnormalities of hands and feet. Polydactyly is frequent. Digits present as globular appendages and are characteristic of the condition. The disease is caused by a missense mutation in the gene encoding cartilage-derived morphogenetic protein-1 (CDMP-1). Most cases described in the literature are from Brazil and, among these, all had ancestors from a particular region in the state of Bahia. We describe two cases of Grebe-Quelce-Salgado chondrodystrophy visualized by prenatal ultrasound. The patients presented in this report do not descend from the population of Bahia and, to our knowledge, case two is the only case with prenatal clinical diagnosis in a family with no previously affected children.
We report a 4-year-old boy, a 6-month-old girl, and a 17-week-old fetus all with a chromosomal imbalance derived from a balanced translocation t(13;15)(q34;q26.1) of their father. The boy had a partial trisomy for 15q26.1-qter (46,XY,der(13)t(13;15)(q34;q26.1)) and postnatal overgrowth, as well as craniosynostosis, facial anomalies, and finger joint contractures, while the girl with the same chromosomal aberration did not show overgrowth, although she had similar craniofacial and skeletal abnormalities. The fetus had a partial monosomy for 15q26.1-qter and intrauterine growth retardation (IUGR). Fluorescence in situ hybridization (FISH) analysis with a BAC clone covering the insulin-like growth factor 1 receptor gene (IGF1R) that is located to 15q25-q26 revealed three copies in the boy, one copy in the fetus, and two copies in their phenotypically normal father. Since deletion of IGF1Rhas repeatedly been reported to be associated with IUGR, it is tempting to speculate that the dosage of IGF1R may have determined growth in these children.