Chromosome abnormalities in newborn children. Aetiological aspects
نویسندگان
چکیده
منابع مشابه
Long-term outcome in children of sex chromosome abnormalities.
An unduly pessimistic description of what it means to have an extra X or Y chromosome is frequently given to the parents of an aVected fetus or child by geneticists and paediatricians because the source of their information has been biased towards abnormality. In 1967 the Medical Research Council set up a cytogenetic survey of consecutive newborn infants to establish the incidence of the variou...
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Submitted by schroder on Mon, 09/08/2014 2:39pm Title Aetiological aspects of the globus symptom. Publication Type Journal Article Year of Publication 1974 Authors Mair, IW, Schröder, KE, Modalsli, B, Maurer, HJ Journal J Laryngol Otol Volume 88 Issue 10 Pagination 1033-40 Date Published 1974 Oct ISSN 0022-2151
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The renewed interest in the study of chromosome abnormalities in hematologic malignancies, particularly in the leukemias, is the result of technical improvements which permit the precise identification of each human chromosome, and of parts of chromosomes as well. The information obtained raises a number of questions regarding the validity of older notions, such as the variability of the chromo...
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The case is briefly reported of a 7-month-old boy with a disseminated neuroblastoma, whose marrow showed neuroblastoma rosettes and on direct examination on two occasions revealed a high proportion of cells with 48 chromosomes forming an abnormal cell line.
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Maenpaa, J. (1972). Archives of Disease in Childhood, 47, 914. Congenital hypothyroidism: aetiological and clinical aspects. In 67 patients with congenital hypothyroidism radioiodide tests, including thyroid scintigraphy, were used to study the aetiology. Athyrosis was found in 5 boys and 16 girls (31 %), maldevelopment of thyroid gland in 1 boy and 2 girls (5%), ectopic gland in 4 boys and 20 ...
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ژورنال
عنوان ژورنال: Hereditas
سال: 2008
ISSN: 0018-0661
DOI: 10.1111/j.1601-5223.1982.tb00042.x