Results 201 to 210 of about 1,534,713 (253)

Chromosomal Disorders and Autism

Journal of Autism and Developmental Disorders, 1998
Many 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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Autosomal Chromosome Disorders and Variations

New England Journal of Medicine, 1976
Chromosomal 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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Chromosomal Fragility in a Behavioral Disorder

Behavior Genetics, 2002
Numerous 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, Teresa, Núñez, Begoña, Martínez, Arantza, Pérez, Mercedes, Télez, Begoña, Criado, Itziar, Gainza, Carlos M, Lostao   +7 more
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Behavioral Aspects of Chromosomal Disorders

Annual Review of Medicine, 1973
Chromosomal 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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Chromosomal disorders associated with epilepsy

Epileptic Disorders, 2005
Epilepsy 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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Ring chromosomes and hematologic disorders

Cancer Genetics and Cytogenetics, 1986
Based 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, P, Beris, D, Piguet, E, Engel   +3 more
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A new chromosome instability disorder

Clinical Genetics, 1986
Chromosome 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, PERETTI, DILETTA, LAMBIASE, SIMONETTA, LO CURTO, FRANCESCO, MINOLI, LORENZO, ZUFFARDI, ORSETTA, CAUFIN D., GARGANTINI L.   +7 more
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Neurosonographic abnormalities in chromosomal disorders

Pediatric Radiology, 1991
A 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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Epilepsy associated with chromosomal disorders

Epilepsy & Behavior
Chromosomal 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, Silvia, Vincentiis, Kette D, Valente   +2 more
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[Chromosomes and chromosome disorders].

Nordisk medicin, 1990
The 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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