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1

Trisomy 8 mosaicism syndrome

100%
Wisniewska M., Mazurek M.
Journal of Applied Genetics
|
2002
|
vol. 43
|
issue 1
115-118
EN
Abstract: Authors present the case of a 15-year-old boy assessed for Marfan syndrome for many years. The child was treated because of skeletal defects, mild mental deficiency and dysmorphic features of face. Chromosomal analysis showed a trisomy 8 mosaicism.
2

Monosomy 10q26-qter and trisomy 11q13-qter as a result of de novo unbalanced translocation

80%
Tinsa F., Chebbi Y., Meddeb M., Bousnina D., Boussetta K., Bousnina S.
Journal of Applied Genetics
|
2009
|
vol. 50
|
issue 3
289-291
EN
A male infant with partial monosomy 10 q and partial trisomy 11q as a result of de novo unbalanced translocation between the long arms of chromosomes 10 and 11: der(10)t(10;11)(q26;q13) is described. He had craniofacial dysmorphy, congenital heart defects, urogenital and cerebral anomalies, and severe developmental delay. To the best of our knowledge, this is the first report of this combination of chromosomal abnormalities.
3

The frequency of satelite associations in parents of children with trisomy 21

80%
Ferenc T., Bratkowska W., Barczyk A., Kochanska H., Orlowska S., Byczkiewicz F.
Journal of Applied Genetics
|
1995
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vol. 36
|
issue 1
81-88
EN
The paperr presents the frequency of satellite associations (SA) of acrocentric chromosomes in 11 mothers and 11 fathers of children with trisomy 21 with reference to meiotic and mitotic nondisjunction.The control group consisted of 60 individuals of the both sexes at the age of 20-45.Satelite associations were investigated in the metaphase plates obtained from the culture of peripheral blood lymphocytes.The association index values (AI) in six mothers and six fatheers exceeded the mean AI value plus 2 standard deviations noted for the control group of women and men.The mean AI values for chromosome 21 in the group of fathers and mothers of children with trisomy 21 were significantly higher in comparison to the control of man and women.Associations 13-21, 21-21, 21-22 in the fgroup of mothers and 13-21, 15-21, 21-21, 21-22 in the group of fathers were observed more frequently than in control group.Associations 13-13-21, 13-21-21, 13-21-2, 21-21-22 occured more frequently in the group of parents of children with trisomy 21 than in the control.
4

Recombinant chromosome 14 due to maternal pericentric inversion

70%
Sliuzas V., Utkus A., Kucinskas V.
Journal of Applied Genetics
|
2008
|
vol. 49
|
issue 2
205-207
EN
Chromosome 14 is often involved in various chromosome rearrangements, most of them balanced. Human chromosome 14 is acrocentric, so its pericentric inversions are extremely rare (only few cases have been described in the literature). Here we report on a boy with congenital malformations and recombinant chromosome 14 inherited from his mother carrying a pericentric inversion. The proband's G-banded chromosome analysis revealed derivative chromosome 14. Comparative genomic hybridization analysis identified duplication of the terminal part of chromosome 14q ish cgh dup(14)(q32.1qter). This abnormality has been confirmed by custom BAC FISH analysis. His mother's karyotype was 46,XX,inv(14)(p11.2q32.1).
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