Results 251 to 260 of about 236,633 (310)
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New England Journal of Medicine, 1976
The sex chromosome abnormalities are one of the most common types of chromosome disorders, occurring once among every 1100 females and once among every 380 males.
Park S Gerald, Gerald Park S
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The sex chromosome abnormalities are one of the most common types of chromosome disorders, occurring once among every 1100 females and once among every 380 males.
Park S Gerald, Gerald Park S
exaly +3 more sources
Genomic disorders on chromosome 22
Current Opinion in Pediatrics, 2012 Chromosome 22, the first human chromosome to be completely sequenced, is prone to genomic alterations. Copy-number variants (CNVs) are common because of an enrichment of low-copy repeat sequences that precipitate a high frequency of nonallelic homologous misalignments and unequal recombination during meiosis.
Shihui, Yu +2 more
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CRC Critical Reviews in Clinical Laboratory Sciences, 1981
A critical and comprehensive review of the major sex chromosome disorders. The introduction briefly outlines the cytogenetic background to these disorders and refers to earlier reviews. The paper then reviews the clinical and psychiatric aspects of the various chromosome disorders.
David Pitcher, V. A. Cowie
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A critical and comprehensive review of the major sex chromosome disorders. The introduction briefly outlines the cytogenetic background to these disorders and refers to earlier reviews. The paper then reviews the clinical and psychiatric aspects of the various chromosome disorders.
David Pitcher, V. A. Cowie
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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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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).
Isabel, Arrieta +7 more
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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, R H, Moos
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Autosomal Chromosome Disorders and Variations
New England Journal of Medicine, 1976Chromosomal abnormalities or variations are related to genetics in three ways: they involve the genetic material, and in that sense are always "genetic"; most of the variants and a proportion of the structural rearrangements are directly transmitted from parent to offspring (i.e., such changes can be inherited); and some of the chromosome abnormalities
O J, Miller, W R, Breg
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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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