The fragile X chromosome in a large Indian kindred
Clinical GeneticsPublished 1 April 1983
R. J. M. Gardner, R. D. Smart, Josephine Cornell, L. M. Merckel, Peter Beighton
Citations26
SJR quartileQ2
SJR score1.09
SNIP1.08
Generate an AI Snapshot to get a quick, structured summary of this paper.
Study Snapshot
ObjectiveStudy objective
MethodsResearch methodology
PopulationPopulation studied
Sample sizeSample sizes
OutcomesStudy outcomes here
ResultsStudy results comes here
LimitationsResearch study limitations comes here
A concise AI-generated summary of the paper will appear here once you click Generate AI Snapshot.
TL;DR
The existence of the fragile X syndrome in a number of different ethnic groups supports the contention that the gene controlling the phenotype and the fragile site are the same, or at least overlap.
Abstract
A large Indian kindred in which the fragile X chromosome is segregating has been investigated in Cape Town. Eight male hemizygotes and four female heterozygotes were mentally retarded. There is suggestive evidence that one deceased male of reportedly normal intelligence may have been a hemizygote. The existence of the fragile X syndrome in a number of different ethnic groups supports the contention that the gene controlling the phenotype and the fragile site are the same, or at least overlap.
Keywords
NeuroscienceBiochemistry, Genetics and Molecular Biology
Journal of Neurology Neurosurgery & PsychiatryA PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE
475 Citations1943J Purdon Martin, Julia Bell
It is illustrative of the secretive-ness of this branch of the family that at the time of the earlier pedigree III 1 was unaware that she had any grandchildren through her daughter IV 2, or that her son IV 1 had more than one child.
The Journal of PediatricsX-linked mental retardation, macro-orchidism, and the Xq27 fragile site
248 Citations1980Gillian Turner, Art Daniel +1 more
The 25 affected males with macro-orchidism and Xq27 fra had some minor clinical features in common: there was an increase in birth weight, high forehead, prognathism, pale irides, big ears, and an increased head circumference in infancy and childhood which did not persist into adult life.
Journal of Intellectual Disability ResearchFRAGILE X‐LINKED MENTAL RETARDATION: THE MARTIN‐BELL SYNDROME
98 Citations1981B. W. Richards, P. E. Sylvester +1 more
Seven members of the original family of sex-linked mental retardation reported by Martin and Bell in 1943 have been re-examined and five of them proved to carry a fragile X chromosome.
Human GeneticsX-linked mental retardation with the fragile X. A study of 15 families
74 Citations1981J. F. Mattéi, Marie‐Geneviève Mattéi +3 more
The coinical and cytogenetic features of 15 families with mental retardation linked to the fragile site on the X chromosome are presented and the clinical picture varied in severity, but the diagnosis from the facial features and the encephalopathy with language retardation and disturbed behavior was sufficiently constant.
Human GeneticsX-Linked mental retardation with fragile X. a pedigree showing transmission by apparently unaffected males and partial expression in female carriers
71 Citations1981Karen Brøndum Nielsen, Niels Tommerup +2 more
A large family is reported in which mental retardation associated with the fragile site at Xq28 was found, and three normal males seemed to have transmitted the trait through their daughters to affected grandchildren.
American Journal of Medical GeneticsMarker X syndrome in an oriental family with probable transmission by a normal male
62 Citations1982Frances A. Rhoads, A C Oglesby +2 more
An oriental family with sex-linked mental retardation, macroorchidism, and a marker or fragile site on the X chromosome--mar(X)(q28) is reported, and Transmission of the disorder appears to have taken place through a clinically normal male to his grandson.
Journal of Medical GeneticsFragile (X)(q27) sites in a pedigree with female carriers showing mild to severe mental retardation.
37 Citations1982G C Webb, Jane Halliday +3 more
It is concluded that pedigrees showing mentally retarded females and probable X linkage should be included in studies of the fra(X)(q27).
PubMedA marker X chromosome associated with nonspecific male mental retardation. The first South African cases.
18 Citations1981Venter Pa, Gericke Gs +2 more
The first cases of X-linked mental retardation with a marker X chromosome seen in South Africa are described and it has now become possible to diagnose an apparently common familial cytogenetic condition with a high risk of recurrence and to identify female carriers.
PEDIATRICSFragile Sites on Chromosomes
7 Citations1982Frederick Hecht, Thomas W. Glover +1 more
A fragile site on the X chromosome is associated with a common form of mental retardation in males and a proportion of females, and this association was not fully appreciated when the fragile site was first described in 1969.