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Chromosomal Fragility in a Behavioral Disorder
Behavior Genetics, 2002Numerous studies have shown there is consistent evidence implicating genetic factors in the etiology of autism. In some cases chromosomal abnormalities have been identified. One type of these abnormalities is gaps and breaks nonrandomly located in chromosomes, denominated fragile sites (FS).
B. Martinez +7 more
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Chromosomal Disorders and Autism
Journal of Autism and Developmental Disorders, 1998Many cases of autism appear to be caused by several abnormal genes acting in concert. The literature on chromosomal aberrations in autism is reviewed, with a view to finding potential gene markers for the neuropsychiatric disorder. Most of the chromosomes have been implicated in the genesis of autism.
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Behavioral Aspects of Chromosomal Disorders
Annual Review of Medicine, 1973Chromosomal abnormalities occur in approximately one out of every 200 liveborn children; about half involve the autosomes and half the sex chromo somes (1). In the USA alone, 18,000 to 20,000 children are born each year with a chromosomal disorder; at any given time over 1,000,000 individuals may be carriers of these abnormalities (2). The possibility
S Kessler, Rudolf H. Moos
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Chromosomal disorders associated with epilepsy
Epileptic Disorders, 2005Epilepsy is among the most common findings associated with chromosome aberrations, particularly those involving autosomal chromosome imbalances. Most chromosome aberrations can be associated with different seizure types, but there are a few aberrations featuring specific seizure and electroencephalographic (EEG) patterns.
Battaglia A, GUERRINI, RENZO
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Sex Chromosomes, Sex Chromosome Disorders, and Disorders of Sex Development [PDF]
, 2012 It 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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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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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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