Access the full text.
Sign up today, get DeepDyve free for 14 days.
Wood Wood, MacGillivray MacGillivray (1988)
Germinal mosaicism in Duchenne muscular dystrophyHuman Geneics, 78
S. Wright (1922)
Coefficients of Inbreeding and RelationshipThe American Naturalist, 56
F. Vogel (1957)
VERZÖGERTE MUTATION BEIM MENSCHEN? EINIGE KRITISCHE BEMERKUNGEN ZU CH. AUERBACHS ARBEIT (1956)Annals of Human Genetics, 22
(1978)
Cell division and cell allocation in early cell
A. Searle (1978)
Evidence from mutable genes concerning the origin of the germ line.Basic life sciences, 12
W. Castle (1929)
A mosaic (intense‐dilute) coat pattern in the rabbitJournal of Experimental Zoology, 52
A. Garrod (1996)
The Incidence of Alkaptonuria: A study in Chemical IndividualityMolecular Medicine, 2
P. Byers, P. Tsipouras, J. Bonadio, B. Starman, R. Schwartz (1988)
Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.American journal of human genetics, 42 2
R. Fisher (1930)
Note on a tri-colour (Mosaic) mouseJournal of Genetics, 23
(1988)
Occasional hypothesis . Somatic mosaicism
New York: Grune & Stratton. 521-530. for the probable detection or exclusion of incest
L. Russell (1964)
Genetic and Functional Mosaicism in the Mouse
J. Hall, J. Dorst, J. Rotta, V. McKusick (1987)
Gonadal mosaicism in pseudoachondroplasia.American journal of medical genetics, 28 1
Hartl Hartl (1971)
Recurrence risks for germinal mosaicsAm. Soc. Hum. Genet., 24
J. West (1978)
Clonal growth versus cell mingling.Basic life sciences, 12
J. Edwards (1988)
Evidence on incest based on homozygosity The use of multiple hypervariable probes for the probable detection or exclusion of incestAnnals of Human Genetics, 52
M. Nesbitt (1971)
X chromosome inactivation mosaicism in the mouse.Developmental Biology, 26
S. Wright, O. Eaton (1926)
Mutational Mosaic Coat Patterns of the Guinea Pig.Genetics, 11 4
J. Edwards (1988)
The population genetics of Duchenne muscular dystrophy.Journal of Medical Genetics, 25
(1926)
examination of testicles from 50 boys who suffered sudden death
(1988)
Mendelian Disorders in M a n
J. Edwards (1986)
The population genetics of Duchenne: natural and artificial selection in Duchenne muscular dystrophy.Journal of Medical Genetics, 23
R. Gardner (1979)
Cell lineage and cell commitment in the early mammalian embryo.Mead Johnson Symposium on Perinatal and Developmental Medicine, 16
(1948)
Les mathimatiques de l’hiriditi
Baird Baird, McGillivray McGillivray (1982)
A study of 29 children of incestJ. Pediatrics, 101
By Auerbach (1956)
A POSSIBLE CASE OF DELAYED MUTATION IN MANAnnals of Human Genetics, 20
Kelly Kelly, Mulnard Mulnard, Graham Graham (1978)
Cell division and cell allocation in early cell development. Embryol. Exp. Morphol., 48
G. Dahlberg (1939)
XV.—On Rare Defects in Human Populations with Particular Regard to In-breeding and Isolate Effects, 58
(1974)
Chimeras vs
Nesbitt Nesbitt (1974)
Chimeras vs. X inactivation mosaicism in the mouseDev. Biol., 26
M. Whitfield, D. Barr (1977)
Thrombocytopenia with absent radius.Archives of Disease in Childhood, 52
H. Northrup, A. Beaudet, WilliamE. O'Brien, G. Herman, R. Lewis, M. Pollack (1987)
LINKAGE OF TUBEROUS SCLEROSIS TO ABO BLOOD GROUPThe Lancet, 330
C. Waddington (1943)
The Genetics of the MouseNature, 152
G. Dahlberg (1948)
Genetics of human populations.Advances in genetics, 35 2
P. Baird, B. Mcgillivray (1982)
Children of incest.The Journal of pediatrics, 101 5
Jørn Müller, N. Skakkebæk (1983)
Quantification of germ cells and seminiferous tubules by stereological examination of testicles from 50 boys who suffered from sudden death.International journal of andrology, 6 2
J. Findlay (1991)
The ovary.Bailliere's clinical endocrinology and metabolism, 5 4
J. Hall, J. Levin, J. Kuhn, E. Ottenheimer, K. BERKUM, V. McKusick (1969)
THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR)Medicine, 48
J. Edwards (1974)
The mutation rate in man.Progress in medical genetics, 10
D. Hartl (1971)
Recurrence risks for germinal mosaics.American journal of human genetics, 23 2
R. Gardner, M. Lyon, E. Evans, M. Burtenshaw (1985)
Clonal analysis of X-chromosome inactivation and the origin of the germ line in the mouse embryo.Journal of embryology and experimental morphology, 88
Summary In man evidence of autosomal recessive disease is usually based on a high sib risk, absence of parent‐child transmission and increased consanguinity. Discrimination from what are sometimes termed multifactorial disorders and their associated environmental effects is usually based on the latter having a lower recurrence risk, an increased recurrence risk after a second affected child and no increase in consanguinity. Another cause of familial disorders with recurrence restricted to sibs which has received little attention is germline mosaicism for a mutation expressed as a dominant. If, for example, an embryonic mutation resulted in half the precursors of the germ cells carrying a mutation with dominant expression, then the proportion of haploid nuclei conveying the mutation, which is the recurrence risk, would be a quarter. If severity precluded reproduction the disorder would tend to be classified as a recessive. While germline mosaicism will rarely be expressed with such a high recurrence risk, the estimation of this risk in rare disorders is difficult due to extreme and unpredictable bias in ascertainment.
Annals of Human Genetics – Wiley
Published: Jan 1, 1989
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.