Results 331 to 340 of about 3,861,183 (367)
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1998
Because sex chromosome disorders frequently result in abnormalities of sexual differentiation, the two subjects are usually discussed together in medical texts. The biology of human sexual differentiation and the pathophysiology of associated defects were discussed in the previous chapter.
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Because sex chromosome disorders frequently result in abnormalities of sexual differentiation, the two subjects are usually discussed together in medical texts. The biology of human sexual differentiation and the pathophysiology of associated defects were discussed in the previous chapter.
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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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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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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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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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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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Epilepsy associated with chromosomal disorders
Epilepsy & BehaviorChromosomal disorders are multisystemic conditions frequently presenting developmental delay and epilepsy as primary neurological symptoms. Epilepsy in these syndromes significantly impacts morbidity, quality of life, and neurodevelopment. Angelman syndrome, ring chromosome 20, Down syndrome, Dup15q syndrome, and others display suggestive ...
Maria A, Montenegro +2 more
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Chromosome Aberrations and Fertility Disorders in Domestic Animals.
Annual Review of Animal Biosciences, 2016T. Raudsepp, B. Chowdhary
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