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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 ...
C, Werner-Favre +3 more
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A new chromosome instability disorder
Clinical Genetics, 1986Chromosome analysis in a 31‐year‐old woman referred for primary amenorrhea, revealed a very high incidence of chromosome aberrations. She had microcephaly and immunodeficiency. Her healthy parents were consanguineous (1/32) and a younger sister, also with primary amenorrhea, died when 20 years old with a malignant lymphoma.Chromosome studies were ...
MARASCHIO, PAOLA +7 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 ...
T E, Herman, M J, Siegel
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[Chromosomes and chromosome disorders].
Nordisk medicin, 1990The risk of bearing a child with chromosomal defects increases once the mother reaches the age of 35; the principal indication for chromosomal examination of the fetus is that the pregnant woman is "older". Chromosomal examination of new-born babies is indicated if it is suspected that dysmorphic features may depend on cytogenetic deviation.
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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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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 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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Sex Chromosomes, Sex Chromosome Disorders, and Disorders of Sex Development
2012It can be argued that the sex chromosomes are the most important pair of chromosomes given their role in determining gender and, therefore, allowing for reproduction and procreation. Considered together, sex chromosome aneuploidies are the most common chromosome abnormalities seen in live-born infants, children, and adults.
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Chromosomal Disorders: A Review
Bulletin of the American College of Nurse-Midwives, 1971S, Schimpeler, A J, Ebbin
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