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Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study
Mortality and cancer incidence were assessed in a cohort of 1373 patients with numerical sex chromosome abnormalities diagnosed at three cytogenetics centres in Britain during 1959–90, and wereExpand
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Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers.
Preliminary results on a large population-based molecular survey of FRAXA and FRAXE are reported. All boys with unexplained learning difficulties are eligible for inclusion in the study and data areExpand
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Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited
The details of all cytogenetic abnormalities diagnosed in the Wessex Regional Genetics Laboratory (WRGL) since 1967 to the present day have been recorded in the Salisbury Treasury of InterestingExpand
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FRAXA and FRAXE: the results of a five year survey.
We report the results of a five year survey of FRAXA and FRAXE mutations among boys aged 5 to 18 with special educational needs (SEN) related to learning disability. We tested their mothers using theExpand
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The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes
Objective: To describe the systematic analysis of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes, characterise the structural chromosomeExpand
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The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission.
Factors involved in the stability of trinucleotide repeats during transmission were studied in 139 families in which a full mutation, premutation or intermediate allele at either FRAXA or FRAXE wasExpand
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A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome
The results of a cytogenetic and molecular reinvestigation of a series of 52 patients with Turner's syndrome are reported. No evidence of Y chromosome material was found among the patients with a 45,Expand
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A cytogenetic and molecular study of a series of 45,X fetuses and their parents.
The parental origin of the single X chromosome in 10 45,X fetuses was studied using DNA restriction fragment length polymorphisms. In six the single X was maternal in origin, in one it was paternal,Expand
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Population studies of the fragile X: a molecular approach.
The fragile X mutation can now be recognised by a variety of molecular techniques. We report a pilot screening survey of a population of children with mental impairment in which we used SouthernExpand
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A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities
We analyzed 448 independently ascertained reciprocal translocations and 220 inversions referred to our diagnostic laboratory. Twenty‐eight percent of the translocations and 8.5% of the inversionsExpand
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