FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2023287794> ?p ?o ?g. }

• W2023287794 endingPage "558" @default.
• W2023287794 startingPage "511" @default.
• W2023287794 abstract "1.(1) The eye is very often malformed in cases of chromosome aberration. The following anomalies may be found: chorioretinal degeneration, high myopia, congenital cataract, anophthalmos, microphthalmia, coloboma of the uvea, persistence of the primary vitreous with Reese's retinal dysplasia, palpebral anomalies, etc. When one of these manifestations is present, a cytogenetic examination should therefore be considered, particularly if there are associated general malformations. 2.(2) When a chromosome aberration is found in a malformed subject, cytogenetic examination of the parents and siblings should be carried out. Balanced translocations will often be found. 3.(3) The different chromosome aberrations give rise to multiple anomalies and malformations, which may be found, isolated or associated, whatever chromosome group is involved, showing that they have no really specific action. 4.(4) When interpreting a karyotype, it should be remembered that the tissue culture in vitro can produce artificial mutations, which do not correspond to a mutation in vivo. An example has been given by Trujilloet al. (1961). Their patient presented with multiple bone fractures, blue sclera and other signs of Van der Hoeve's syndrome. An initial culture of blood showed a reciprocal translocation A ∼ C. In contrast, the cells obtained from a second blood culture showed normal karyotypes. Tissue cultures should therefore be repeated. 5.(5) The possibility of mosaicism should always be borne in mind, and several tissues should therefore be examined (blood, skin, muscle, fascia lata). 6.(6) It should not be immediately concluded that there is a cause-and-effect relation between a chromosome aberration and a phenotypic manifestation. The cytogenetic anomaly may, in fact, be the consequence of the disease, as in Waldenström's macroglobulinaemia or in disorders of thyroid metabolism. 7.(7) It is probable that still more chromosome aberrations will be found, particularly when we can make better studies of the intimate structure of chromosomes and the chemical composition of enzymes. It seems, however, that the number of ‘chromosome disorders’ will remain relatively limited for the simple reason that the majority of deletions and other chromosome aberrations are lethal. The list of disorders in which a karyotype anomaly has been sought in vain is already much longer than that in which a chromosome aberration has been demonstrated. Moreover, as long as it is not possible to recognize with certainty to which group a given chromosome belongs, to identify the chromosome itself or a fragment of chromosome, we must be cautious in the interpretation of a karyotype in a clinical case, and avoid creating new syndromes without sufficient proof." @default.
• W2023287794 created "2016-06-24" @default.
• W2023287794 creator A5015615787 @default.
• W2023287794 date "1967-05-01" @default.
• W2023287794 modified "2023-09-25" @default.
• W2023287794 title "Autosomal chromosome aberrations in ophthalmology" @default.
• W2023287794 cites W1501932864 @default.
• W2023287794 cites W1518396894 @default.
• W2023287794 cites W1965072382 @default.
• W2023287794 cites W1965868967 @default.
• W2023287794 cites W1968276650 @default.
• W2023287794 cites W1970603416 @default.
• W2023287794 cites W1971646846 @default.
• W2023287794 cites W1973571479 @default.
• W2023287794 cites W1974005387 @default.
• W2023287794 cites W1974123394 @default.
• W2023287794 cites W1976223039 @default.
• W2023287794 cites W1976428106 @default.
• W2023287794 cites W1976514555 @default.
• W2023287794 cites W1976676822 @default.
• W2023287794 cites W1977236886 @default.
• W2023287794 cites W1978694896 @default.
• W2023287794 cites W1979687999 @default.
• W2023287794 cites W1981461029 @default.
• W2023287794 cites W1984539974 @default.
• W2023287794 cites W1984609730 @default.
• W2023287794 cites W1987257612 @default.
• W2023287794 cites W1989945641 @default.
• W2023287794 cites W1992462034 @default.
• W2023287794 cites W1994042199 @default.
• W2023287794 cites W1994271478 @default.
• W2023287794 cites W1996245757 @default.
• W2023287794 cites W1996260061 @default.
• W2023287794 cites W1996380590 @default.
• W2023287794 cites W1998206195 @default.
• W2023287794 cites W2000833242 @default.
• W2023287794 cites W2001294513 @default.
• W2023287794 cites W2001354127 @default.
• W2023287794 cites W2001642589 @default.
• W2023287794 cites W2002454838 @default.
• W2023287794 cites W2003326781 @default.
• W2023287794 cites W2004034681 @default.
• W2023287794 cites W2004942807 @default.
• W2023287794 cites W2006568723 @default.
• W2023287794 cites W2007161165 @default.
• W2023287794 cites W2008821876 @default.
• W2023287794 cites W2008826694 @default.
• W2023287794 cites W2008990509 @default.
• W2023287794 cites W2009022320 @default.
• W2023287794 cites W2011429211 @default.
• W2023287794 cites W2011626813 @default.
• W2023287794 cites W2016304743 @default.
• W2023287794 cites W2018455811 @default.
• W2023287794 cites W2019113982 @default.
• W2023287794 cites W2022338813 @default.
• W2023287794 cites W2022609469 @default.
• W2023287794 cites W2023104542 @default.
• W2023287794 cites W2024471237 @default.
• W2023287794 cites W2028106368 @default.
• W2023287794 cites W2030123196 @default.
• W2023287794 cites W2030908963 @default.
• W2023287794 cites W2031111809 @default.
• W2023287794 cites W2033324452 @default.
• W2023287794 cites W2034599458 @default.
• W2023287794 cites W2034654188 @default.
• W2023287794 cites W2035452918 @default.
• W2023287794 cites W2035650282 @default.
• W2023287794 cites W2035736555 @default.
• W2023287794 cites W2036278055 @default.
• W2023287794 cites W2036985707 @default.
• W2023287794 cites W2037431982 @default.
• W2023287794 cites W2038415174 @default.
• W2023287794 cites W2040280291 @default.
• W2023287794 cites W2040703122 @default.
• W2023287794 cites W2041662574 @default.
• W2023287794 cites W2041681442 @default.
• W2023287794 cites W2044579159 @default.
• W2023287794 cites W2045441887 @default.
• W2023287794 cites W2046045486 @default.
• W2023287794 cites W2046725070 @default.
• W2023287794 cites W2048745556 @default.
• W2023287794 cites W2050039595 @default.
• W2023287794 cites W2050361501 @default.
• W2023287794 cites W2052225838 @default.
• W2023287794 cites W2052314162 @default.
• W2023287794 cites W2054728724 @default.
• W2023287794 cites W2054890622 @default.
• W2023287794 cites W2055766356 @default.
• W2023287794 cites W2055895530 @default.
• W2023287794 cites W2056851904 @default.
• W2023287794 cites W2056856016 @default.
• W2023287794 cites W2058311420 @default.
• W2023287794 cites W2059936703 @default.
• W2023287794 cites W2060826726 @default.
• W2023287794 cites W2063298226 @default.
• W2023287794 cites W2065659612 @default.
• W2023287794 cites W2065888451 @default.
• W2023287794 cites W2068954502 @default.

• next