Akademik Veri Yönetim Sistemi
CHROMOSOME RESEARCH, cilt.15, sa.1, ss.122, 2007 (SCI-Expanded)
Fetal karyotype 46,XX[44]/48,XX,+2xmar[11] was
identified by amniotic fluid analysis of a pregnant
woman referred for advanced maternal age and a
mentally retarded child. CBG and NOR banding
analysis showed that these marker chromosomes are
monocentric and bisatellited and that they have the
same structure. In order to identify whether they are
inherited in the family, chromosome analysis of the
parents and their mentally retarded child was done.
The results showed that the mother has the same
marker in a singular form with mosaic structure and
the mentally retarded child has the marker in the
singular form in all cells from blood lymphocytes.
Additionally chromosome analysis was done on the
grandparents. The grandmother has the same marker
with mosaic structure in singular and double copy.
To identify the origin of the marker specific to this
family FISH analysis was performed and the origin
from chromosome 14 was determined. The painting
probes include series involving satellites, therefore
the existence of euchromatin materials in the marker
chromosome could not be proven. Second level
ultrosonographic findings were normal. The fetus
has two marker chromosomes in mosaic form so that
an adverse effect on the phenotype cannot be
predicted; genetic counselling and prenatal treatments are disscussed. Although the family members
carrying the marker chromosome have normal phenotypes, the effect of the the mosaic marker in the
fetus cannot be determined. With all this information
genetic counselling was given to the family. The
etiology of the mentally retarded child has to be
identified before a new pregnancy should be planned.