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Genetyka i biogeneza mitochondriów Saccharomyces cerevisiae

100%

Kotylak Z.

tom 17

nr 3-4

Nuclear gene affecting mitochondrial protein synthesis

63%

Orlowska-Matuszewska G. , Kotylak Z.

Acta Biochimica Polonica

1988

tom 35

nr 2

Protoplast fusion in Saccharomyces cerevisiae

63%

Skala J. , Kotylak Z.

1984

tom 33

nr 1

The genetic mapping of the OXI3 mitochondrial region

63%

Misiewicz M. H. , Kotylak Z.

1982

tom 31

nr 3-4

Attempts to apply marker ade₁ in the test for allelism among respiration mutations in yeast

51%

Kolodynski J. , Kotylak Z. , Lachowicz T. M.

tom 10

nr 3-4

Selective silver staining of nucleolar organizer regions (AgNORs) as useful parameter to describe oxidative stress

51%

Wnuk M. , Bugno M. , Kotylak Z. , Slota E.

nr Supplement 4

Light effects in yeast: Relation between the respiratory deficiency and light sensitivity in yeast

51%

Ulaszewski S. , Kolodynski J. , Kotylak Z.

1982

tom 31

nr 3-4

Factors responsible for modulation of ribosomal RNA transcription

51%

Wnuk M. , Slota E. , Kotylak Z. , Bugno M.

nr 1-2

Additional chromosome in a child as a result of balanced reciprocal translocation t[12:18][p13:q12] in his mother's karyotype

38%

Lassota M. , Przelozna B. , Plodzien M. , Bugno M. , Wnuk M. , Kotylak Z. , Slota E.

nr 4

419-421

In this case report we present a child with an additional chromosome in the karyotype. The karyotypes of the boy and his parents were analyzed by use of a conventional banding technique (GTG) and fluorescence in situ hybridization (FISH). Probes painting whole chromosomes 12 and 18 were used in FISH. Cytogenetic examination of the parents revealed that his mother was carrying balanced reciprocal translocation between chromosomes 12 and 18. Her karyotype was described as 46,XX,t(12;18)(p13;q12). Father's karyotype was normal, described as 46,XY. The boy's karyotype was defined as 47,XY,+der(18)t(12;18)(p13;q12). The additional chromosome appeared probably due to 3 : 1 meiotic disjunction of the maternal balanced translocation, known as tertiary trisomy. The mother displayed a normal phenotype and delivered earlier a healthy child. However, the boy with the unbalanced karyotype shows multiple congenital abnormalities.