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Ring chromosomes and hematologic disorders
Cancer Genetics and Cytogenetics, 1986Based on 5 years of cytogenetic evaluation in hematology, we report our observations on various hematologic proliferative disorders with ring chromosomes. Comparing our data to those previously published in the literature we analyzed the occurrence of the ring in relation to the age of onset, previous history of therapeutic or professional exposure to ...
Photis Beris +3 more
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Neurosonographic abnormalities in chromosomal disorders
Pediatric Radiology, 1991A retrospective study of cranial sonograms in infants with autosomal trisomies excluding Down's syndrome was performed. A range of abnormalities was found including structural anomalies, vascular changes and hydrocephalus. Although nonspecific, many of these abnormalities can suggest a specific chromosomal abnormality in the appropriate clinical ...
Marilyn J. Siegel, Thomas E. Herman
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Dysplasias in Chromosome Disorders
1975The clinical expressions of anomalies of autosomes, which affect all body cells, are generally more severe than those of the sex chromosomes. Rather massive anomalies in the number of a sex chromosome, such as monosomy or polysomy, may be accompanied with comparatively slight derangements.
Reinhard L. Friede, Reinhard L. Friede
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Chromosome analysis in hematologic disorders
The American Journal of Medicine, 1984For two decades, cytogenetic studies have been used to rule in (or out) the Philadelphia (Ph1) chromosome associated with chronic myeloid leukemia. Beyond this single purpose, chromosome studies have generally not been utilized in or applied to the practice of hematology-oncology. This report presents male and female patients, teens to 70s in age, with
Rodman Morgan +4 more
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Isodicentric X Chromosome in Myeloproliferative Disorders
Acta Haematologica, 1989Two further cases of acquired isodicentric (X)(q13) chromosome in patients with myeloproliferative disorders are reported. One patient had a primary myelofibrosis and the other a chronic myelogenous leukemia. DNA replication study demonstrated that both abnormal X chromosomes were late replicating in all cells examined. The inactive condition of idic(X)
TEMPERANI, Paola +5 more
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The Y-chromosome and reproductive disorders
Reproduction, Fertility and Development, 1998Over the past decade the tools of modern molecular biology have provided unique insights into our fundamental understanding of developmental systems. These insights have been gleaned from the study of a wide variety of model organisms including yeast (Saccharomyces cerevisiae), fly (Drosophila), worm (Caenorhabditis elegans), and mouse.
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Chromosome disorders associated with epilepsy
2013Epilepsy is a feature of several hundred chromosome abnormalities. However, there are relatively few conditions in which epilepsy is a consistent feature and even fewer in which the electroclinical phenotype is recognizable. Advances in cytogenetics and molecular genetics are leading to the detection of more complex and smaller chromosomal re ...
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Learning disorders and sex chromosome aberrations.
Journal of mental deficiency research, 2008No sex chromosome aberrations were detected in a prospective study of twenty adult dyslexic men. A retrospective study of eighty-nine subjects with known sex chromosome aberrations revealed twenty of them to be mentally-retarded.
Daniel B Hier, L. Atkins, V. Perlo
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Chromosomal Disorders of Sex Development
2018Chromosomal sex is, for the most part, congruently XX female and XY male. The XX and XY embryo are built on a fundamentally similar outline plan, and only as development proceeds do certain modifications evolve. If at any point in this sequential process some genetic instruction is faulty, inappropriate, or cannot be acted on, the direction of ...
R. J McKinlay Gardner, David J. Amor
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Chromosomal Disorders in Pregnancy
1985Approximately 1:160 liveborns has an abnormality in chromosome number or structure. Some chromosome abnormalities (e.g., trisomy 13 or 18) are so deleterious that they preclude reproduction by an affected individual. Other chromosomal anomalies (e.g., Down’s syndrome or 47,XXX) are less severe, and pregnancy is not unexpected.
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