RESUMO
Master's level genetic counselors formed a professional society in 1979, 8 years after the first master's degree training program graduation. This paper presents an oral history of the early years of the National Society of Genetic Counselors (NSGC), reviews the symbiotic development and definition of a profession and a professional society, and discusses events and achievements attributed to the NSGC since its incorporation. This retrospective historical account is based on personal and collective oral history, NSGC archival material and other sources.
RESUMO
A brother and sister born to normal, nonconsanguineous parents have a syndrome of profound sensorineural hearing deficiency, enamel hypoplasia limited to the permanent dentition, and nail abnormalities. This appears to be a previously unreported inherited syndrome.
Assuntos
Hipoplasia do Esmalte Dentário/genética , Perda Auditiva Neurossensorial/genética , Unhas Malformadas , Anormalidades Múltiplas/genética , Criança , Feminino , Humanos , Masculino , SíndromeAssuntos
Adaptação Psicológica , Anormalidades Congênitas/diagnóstico , Tomada de Decisões , Morte Fetal , Aconselhamento Genético/métodos , Comportamento Materno , Aborto Induzido/psicologia , Ansiedade/psicologia , Erros de Diagnóstico , Feminino , Pesar , Humanos , Recém-Nascido , Masculino , Defesa do Paciente , Linhagem , Gravidez , Diagnóstico Pré-Natal , Apoio SocialRESUMO
We report a case of ureteral triplication as part of an autosomal dominant syndrome comprising bilateral amastia, pectus excavatum, umbilical hernia, patent ductus arteriosus, dysmorphic low set ears, ptosis, epicanthic folds with an antimongoloid slant to the eyes, hypertelorism, high arched palate, flat broad nasal bridge, tapered digits, cubitus valgus and syndactyly.
Assuntos
Anormalidades Múltiplas/genética , Mama/anormalidades , Genes Dominantes , Ureter/anormalidades , Adulto , Feminino , Cardiopatias Congênitas/genética , Humanos , Recém-Nascido , Masculino , SíndromeRESUMO
The family on which this report is based is of interest because it contains individuals with the branchio-oto-renal (BOR) syndrome who have renal hypoplasia or malformations of the kidney or collecting system including duplication; only branchial and ear anomalies; and apparent nonpenetrance of the syndrome. This report provides evidence to support the hypothesis that in some families variable expressivity includes duplication of the urinary collecting system in individuals with other manifestations of the BOR syndrome as well as individuals with branchial and ear anomalies who have apparently normal kidneys.
Assuntos
Anormalidades Múltiplas/genética , Região Branquial , Orelha/anormalidades , Rim/anormalidades , Feminino , Genes Recessivos , Humanos , Masculino , Linhagem , SíndromeRESUMO
Two children of Austrian Ashkenazic Jewish background, related as second cousins, have a variant of opalescent dentin in their deciduous teeth. This has been classified by Witkop as Brandywine isolate hereditary opalescent dentin and by Shields as dentinogenesis imperfecta type III. One of the children also has dysmorphic facial features, seizures, and severe mental retardation. Her mother has dysmorphic facial features and mild mental retardation. The mothers of both children and several other family members have classic opalescent dentin (dentinogenesis imperfecta type II). Radiographs of the deciduous and permanent dentitions of one mother showed obliterated pulp chambers. Confirmation of obliterated pulp chambers in the deciduous teeth of the mother of a child with Brandywine isolate hereditary opalescent dentin makes it unlikely that classic opalescent dentin and Brandywine isolate hereditary opalescent dentin are separate genetic disorders. Evidence from this family supports the hypothesis that Brandywine isolate hereditary opalescent dentin is a variant of opalescent dentin.
Assuntos
Dentinogênese Imperfeita/genética , Judeus , Adulto , Áustria , Pré-Escolar , Dentina/patologia , Dentinogênese Imperfeita/classificação , Dentinogênese Imperfeita/patologia , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , LinhagemRESUMO
A family is described in which 16 individuals in 3 generations have Charcot-Marie-Tooth disease. At least 6 family members also have the naevoid basal cell carcinoma syndrome. In addition, 1 subject with both disorders has 2 young daughters with the naevoid basal cell carcinoma syndrome.