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A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT SHOX gene haploinsufficiency is associated with Léri‐Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS) and could be caused by the structural and point mutations in the coding region and by the deletions in SHOX gene regulatory sequences. The role of the duplications in regulatory sequences is ambivalent.
Valeriia Kopytko +3 more
wiley +1 more source
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Food Additives & Contaminants, 1984
Three points related to the subject of chromosome-aberration tests and carcinogenicity screening are dealt with in this paper. First, the relation between chromosome rearrangements and oncogenesis is briefly discussed, to stress the relevance of cytogenetic assays to assessment of the carcinogenic potential of drugs.
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Three points related to the subject of chromosome-aberration tests and carcinogenicity screening are dealt with in this paper. First, the relation between chromosome rearrangements and oncogenesis is briefly discussed, to stress the relevance of cytogenetic assays to assessment of the carcinogenic potential of drugs.
openaire +2 more sources
1999
Abstract In this chapter we consider gonadal maldevelopment caused by X-chromosome aberrations. As in Chapter 5, “gonadal maldevelopment” is defined broadly so that it includes defective spermatogenesis due to an extra X chromosome in XXY males and gonadal dysgenesis due to accelerated oocyte attrition in XO females. These two conditions,
Leonard Pinsky +2 more
openaire +1 more source
Abstract In this chapter we consider gonadal maldevelopment caused by X-chromosome aberrations. As in Chapter 5, “gonadal maldevelopment” is defined broadly so that it includes defective spermatogenesis due to an extra X chromosome in XXY males and gonadal dysgenesis due to accelerated oocyte attrition in XO females. These two conditions,
Leonard Pinsky +2 more
openaire +1 more source
Autosomal Chromosome Aberrations
1976Prior to the introduction of cytogenetic techniques in human medicine some 15 years ago, only a single chromosome aberration syndrome, Down’s syndrome, was known clinically, but its etiology was still unclear. By direct chromosome examination, it was later shown that the clinical picture of Down’s syndrome is caused by the presence of an additional No.
openaire +3 more sources
Mutation Research/Genetic Toxicology and Environmental Mutagenesis, 2008
Adayapalam T. Natarajan +2 more
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Adayapalam T. Natarajan +2 more
+4 more sources
Chromosome Aberrations and Cancer
Science, 1991Cancer may be defined as a progressive series of genetic events that occur in a single clone of cells because of alterations in a limited number of specific genes: the oncogenes and tumor suppressor genes. The association of consistent chromosome aberrations with particular types of cancer has led to the identification of some of these genes and the ...
E, Solomon, J, Borrow, A D, Goddard
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