Literature DB >> 3950934

Autosomal recessive or sex linked recessive: a counselling dilemma.

I D Young, Z Nugent, T Grimm.   

Abstract

This paper discusses the difficult problem that arises when information is sought by female relatives of two or more brothers, each of whom has an identical but undiagnosed or 'new' syndrome, which is likely to be either autosomal recessive or sex linked recessive in inheritance. It is proposed that standard Bayesian methods may be applied in this situation thus incorporating the prior probability for each event with conditional probabilities based upon pedigree analysis.

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Mesh:

Year:  1986        PMID: 3950934      PMCID: PMC1049537          DOI: 10.1136/jmg.23.1.32

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  2 in total

1.  Natal teeth, patent ductus arteriosus and intestinal pseudo-obstruction: a lethal syndrome in the newborn.

Authors:  D J Harris; K W Ashcraft; E C Beatty; T M Holder; J C Leonidas
Journal:  Clin Genet       Date:  1976-05       Impact factor: 4.438

2.  The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.

Authors:  U Francke; J Felsenstein; S M Gartler; B R Migeon; J Dancis; J E Seegmiller; F Bakay; W L Nyhan
Journal:  Am J Hum Genet       Date:  1976-03       Impact factor: 11.025

  2 in total
  4 in total

1.  Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

Authors:  Julia Lauer Zillhardt; Karine Poirier; Loïc Broix; Nicolas Lebrun; Adrienne Elmorjani; Jelena Martinovic; Yoann Saillour; Giuseppe Muraca; Juliette Nectoux; Bettina Bessieres; Catherine Fallet-Bianco; Stanislas Lyonnet; Olivier Dulac; Sylvie Odent; Imen Rejeb; Lamia Ben Jemaa; Francois Rivier; Lucile Pinson; David Geneviève; Yuri Musizzano; Nicole Bigi; Nicolas Leboucq; Fabienne Giuliano; Nicole Philip; Catheline Vilain; Patrick Van Bogaert; Hélène Maurey; Cherif Beldjord; François Artiguenave; Anne Boland; Robert Olaso; Cécile Masson; Patrick Nitschké; Jean-François Deleuze; Nadia Bahi-Buisson; Jamel Chelly
Journal:  Eur J Hum Genet       Date:  2015-09-23       Impact factor: 4.246

2.  X linked or autosomal recessive? A new approach to an old problem.

Authors:  A P Read
Journal:  J Med Genet       Date:  1989-05       Impact factor: 6.318

3.  Benign muscular dystrophy: risk calculation in families with consanguinity.

Authors:  G Wolff; C R Müller; T Grimm
Journal:  J Med Genet       Date:  1989-05       Impact factor: 6.318

Review 4.  Recurrence risks in mental retardation.

Authors:  Y J Crow; J L Tolmie
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

  4 in total

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