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AMNIOTIC FLUID ALPHA-FETOPROTEIN LEVELS AND THE PRENATAL DIAGNOSIS OF NEURAL TUBE DEFECTS: A COLLABORATIVE STUDY OF 2180 PREGNANCIES IN THE NETHERLANDS (1978)

Kleijer, W. J. ; Bruijn, H. W. A. ; Leschot, N. J.

Oxford, UK : Blackwell Publishing Ltd

BJOG 85 (1978), S. 0

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ISSN: 1471-0528

Source: Blackwell Publishing Journal Backfiles 1879-2005

Topics: Medicine

Notes: Amniotic fluid alpha-fetoprotein (AFP) concentrations were measured in 2180 patients at risk of fetal abnormality because of previous history, family history, advanced maternal age, suspected fetal growth retardation and hydramnios. In 12 patients investigated before 20 weeks gestation, pregnancy was terminated because of a raised amniotic fluid AFP-level: 11 fetuses had neural tube defects (NTDs) and one had a congenital nephrosis. There were no false negative results in the 1927 patients tested before 20 weeks and with a pregnancy of known outcome. In patients tested after 20 weeks, the amniotic fluid AFP concentration was raised in 20 cases of anencephaly, in 9 fetuses with severe congenital malformations without NTD and in one apparently normal fetus. Of 428 patients with a previous offspring who had a NTD, only 8 (1.9 per cent) again had a fetus with a NTD.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1111/j.1471-0528.1978.tb15625.x

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‘Complete’ trisomy 5p; de novo translocation t(2;5)(q36;p11) with isochromosome 5p (1979)

Leschot, N. J. ; Lim, K. S.

Springer

Human genetics 〈Berlin〉 46 (1979), S. 271-278

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ISSN: 1432-1203

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: Summary A case of complete trisomy 5p due to a de novo translocation t(2;5)(q36;p11) with an isochromosome 5p is described. Complete trisomy 5p has been reported only once (Brimblecombe et al., 1977). The confusing literature relating to partial trisomy 5p is reviewed. Comparison of our case with the patients reported by Brimblecombe et al. (1977) and by Opitz and Patau (1975) is suggestive for a distinct clinical syndrome if (almost) the complete short arm of chromosome 5 is present in a trisomic state. Unfortunately the clinical findings in the case of Brimblecombe (1966, 1977) are poorly documented. The main features of this syndrome are: macrocephaly, psychomotor retardation, hypotonia, postnatal growth failure, tracheobronchial involvement, mongoloid slant of the eyes, epicanthus, low-set ears, depressed nasal bridge, short first toe, and seizures.