INHERITANCE OF A CHROMOSOME 3 AND 21
TRANSLOCATION IN THE FETUSES, WITH ONE ALSO
HAVING TRISOMY 21, IN THREE PREGNANCIES
IN ONE FAMILY Pazarbasi A1,*, Demirhan O1, Alptekin D1, Ozgunen FT2, Ozpak L1,
Yilmaz MB1, Nazlican E3, Tanriverdi N1, Luleyap U1, Gümürdülü D4 *Corresponding Author: Associate Professor Ayfer Pazarbasi (Ph.D.), Çukurova University, Faculty of Medicine,
Department of Medical Biology and Genetics, 01330 Adana, Turkey; Tel.: +90-322-338-6060/3498; Fax:
+90-322-338-6572; E-mail: payfer@cu.edu.tr page: 91 download article in pdf format
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Abstract
The majority of chromosome rearrangements are
balanced reciprocal and Robertsonian translocations.
It is now known that such abnormalities cause no phenotypic
effect on the carrier but lead to increased risk
of producing unbalanced gametes. Here, we report the
inheritance of a translocation between chromosomes
3 and 21 in a family with one of two fetuses with
Down Syndrome carrying the same translocation and
the other also carrying the same translocation without
the additional chromosome 21. Chromosomal
analysis from fetal amniotic fluid and peripheral blood
lymphocytes from the family were performed at the
Çukurova University Hospital at Adana, Turkey. We
assessed a family in which the translocation between
chromosomes 3 and 21 segregates: one of the three
progenies carried the 47,XX,+21,t(3;21)(q21;q22)
karyotype and presented with Down Syndrome; another
of the three progenies carried the 46,XX,t(3;21)
(q21;q22) karyotype and the third had the 46,XY
karyotype. Their mother is phenotypically normal.
Apparently this rearrangement occurred due to an
unbalanced chromosome segregation of the mother
[t(3;21)(q21;q22)mat]. This family will enable us to
explain the behavior of segregation patterns and the
mechanism for each type of translocation from carrier
to carrier and their effects on reproduction and
numerical aberrations. These findings can be used in
clinical genetics and may be used as an effective tool
for reproductive guidance and genetic counseling.
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