ArticleJournal of genetic counseling1995
Recommendations for standardized human pedigree nomenclature.
Article in Journal of genetic counseling, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2007Guideline
- f-treeGC: a questionnaire-based family tree-creation software for genetic counseling and genome cohort studies.BMC medical genetics · 2017Trial
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families.BMC ophthalmology · 2024Article
- Secondary Students' Reasoning on Pedigree Problems.CBE life sciences education · 2022Article
- Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant inFrontiers in pediatrics · 2022Article
- XPC and POLH/XPV Genes Mutated in a Genetic Cluster of Xeroderma Pigmentosum Patients in Northeast Brazil.Frontiers in genetics · 2021Article
- Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.Journal of translational medicine · 2019Article
- A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family.Genes & genomics · 2018Article
- Non-Biological (Fictive Kin and Othermothers): Embracing the Need for a Culturally Appropriate Pedigree Nomenclature in African-American Families.Journal of National Black Nurses' Association : JNBNA · 2014Article
- Identification of a balanced complex chromosomal rearrangement involving chromosomes 3, 18 and 21 with recurrent abortion: case report.Molecular cytogenetics · 2014Article
- Establishing the essential nursing competencies for genetics and genomics.Journal of nursing scholarship : an official publication of Sigma Theta Tau International Honor Society of Nursing · 2007Article
- Medical genetics: 3. An approach to the adult with a genetic disorder.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2002Article
- Changing the definition of "proband" in the new standardized nomenclature for pedigrees.Journal of genetic counseling · 1996Article
- Association of follistatin and cytochrome p450 side-chain cleavage enzyme with polycystic ovarian syndrome.International journal of health sciencesArticle
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The construction of an accurate family pedigree is a fundamental component of a clinical genetic evaluation and of human genetic research. Previous surveys of genetic counselors and human genetic publications have demonstrated significant inconsistencies in the usage of common pedigree symbols representing situations such as pregnancy, termination of pregnancy, miscarriage, and adoption, as well as less common scenarios such as pregnancies conceived through assisted reproductive technologies. The Pedigree Standardization Task Force (PSTF) was organized through the Professional Issues Committee of the National Society of Genetic Counselors, to establish recommendations for universal standards in human pedigree nomenclature. Nomenclature was chosen based on current usage, consistency among symbols, computer compatibility, and the adaptability of symbols to reflect the rapid technical advances in human genetics. Preliminary recommendations were presented for review at three national meetings of human genetic professionals and sent to >100 human genetic professionals for review. On the basis of this review process, the recommendations of the PSTF for standardized human pedigree nomenclature are presented here. By incorporating these recommendations into medical genetics professional training programs, board examinations, genetic publications, and pedigree software, the adoption of uniform pedigree nomenclature can begin. Usage of standardized pedigree nomenclature will reduce the chances for incorrect interpretation of patient and family medical and genetic information. It may also improve the quality of patient care provided by genetic professionals and facilitate communication between researchers involved with genetic family studies.
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.