Results 271 to 280 of about 110,198 (324)
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Recurrences of trisomy 18 and trisomy 13 after trisomy 21
Human Genetics, 1989Between 40 years and 43 years of age, a woman had three consecutive pregnancies with different prenatally diagnosed autosomal trisomies. This is compatible with the view that the predisposition to non-disjunction is not chromosome-specific.
D R, FitzPatrick, E, Boyd
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NeoReviews, 2012
In this paper, we review the complex medical, ethical, and psychosocial decisions that confront maternal fetal medicine specialists, neonatologists, parents, nurses, and other providers in the management of infants diagnosed with two chromosomal conditions generally considered as lethal anomalies.
T. Allen Merritt +5 more
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In this paper, we review the complex medical, ethical, and psychosocial decisions that confront maternal fetal medicine specialists, neonatologists, parents, nurses, and other providers in the management of infants diagnosed with two chromosomal conditions generally considered as lethal anomalies.
T. Allen Merritt +5 more
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2003
De bekendste numerieke chromosoomafwijking is trisomie 21, ofwel Downsyndroom (zie vorige hoofdstuk). Kinderen met trisomie 13 (vroeger ook wel syndroom van Patau genoemd) of trisomie 18 (het vroegere syndroom van Edwards) zijn veel minder bekend omdat ze in de regel niet lang overleven en maar kort thuis kunnen zijn.
C. T. R. M. Schrander-Stumpel +1 more
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De bekendste numerieke chromosoomafwijking is trisomie 21, ofwel Downsyndroom (zie vorige hoofdstuk). Kinderen met trisomie 13 (vroeger ook wel syndroom van Patau genoemd) of trisomie 18 (het vroegere syndroom van Edwards) zijn veel minder bekend omdat ze in de regel niet lang overleven en maar kort thuis kunnen zijn.
C. T. R. M. Schrander-Stumpel +1 more
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Human Genetics, 1977
A 5-month-old female was found with a 16q- trisomy; her mother was the carrier of a balanced translocation 46,XX,t(15p+;16q-)(15p12;16q11). This is the first report in the literature of a liveborn with this chromosome abnormality.
E, Yunis +2 more
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A 5-month-old female was found with a 16q- trisomy; her mother was the carrier of a balanced translocation 46,XX,t(15p+;16q-)(15p12;16q11). This is the first report in the literature of a liveborn with this chromosome abnormality.
E, Yunis +2 more
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Human Genetics, 1979
A dysmorphic female born with partial trisomy of the proximal segment of the long arm of chromosome 14 had 47 chromosomes. The extra one was acrocentric, smaller than the D group, and bigger than the G-chromosome group. By GTG banding it was identified as a deleted chromosome 14, the karyotype being 47,XX,+del 14(q24).
I, Lopez Pajares +4 more
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A dysmorphic female born with partial trisomy of the proximal segment of the long arm of chromosome 14 had 47 chromosomes. The extra one was acrocentric, smaller than the D group, and bigger than the G-chromosome group. By GTG banding it was identified as a deleted chromosome 14, the karyotype being 47,XX,+del 14(q24).
I, Lopez Pajares +4 more
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2004
Die Trisomie 18 (Edwards-Syndrom, Erstbeschreibung 1960) ist nach dem Down-Syndrom die zweithaufigst vorkommende numerische Aneuploidie. Dabei ist das Chromosom 18 in jeder Korperzelle des Kindes dreifach vorhanden.
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Die Trisomie 18 (Edwards-Syndrom, Erstbeschreibung 1960) ist nach dem Down-Syndrom die zweithaufigst vorkommende numerische Aneuploidie. Dabei ist das Chromosom 18 in jeder Korperzelle des Kindes dreifach vorhanden.
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The Indian Journal of Pediatrics, 1996
[No abstract available]
Elbistan M., Kucukoduk S., Kara N.
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[No abstract available]
Elbistan M., Kucukoduk S., Kara N.
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Acta Paediatrica, 1977
Abstract. The first known case of trisomy 20 mosaicism is described. As in other cases of (partial) trisomy 20, the patient showed scarce physical malformations. It is suggested that trisomies for chromosomes of the F group are rare not because they are lethal but as a result of the morphology of the chromosomes involved.
X, Carbonell +3 more
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Abstract. The first known case of trisomy 20 mosaicism is described. As in other cases of (partial) trisomy 20, the patient showed scarce physical malformations. It is suggested that trisomies for chromosomes of the F group are rare not because they are lethal but as a result of the morphology of the chromosomes involved.
X, Carbonell +3 more
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Clinical Genetics, 1977
A case of partial 7q trisorny is reported, resulting from a maternal translocation t(7;9) (q31;p24). The phenotypic expression of the 7q trisomies is discussed.
R, Berger, C, Turc, H, Wachter, G, Begue
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A case of partial 7q trisorny is reported, resulting from a maternal translocation t(7;9) (q31;p24). The phenotypic expression of the 7q trisomies is discussed.
R, Berger, C, Turc, H, Wachter, G, Begue
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