2014, Number 3
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Rev Cub Gen 2014; 8 (3)
Balanced chromosome rearrangement in a prenatal diagnosis case
Torriani MGP, González GN, Bravo ÁY, Maceira RL, Tejeda VA
Language: Spanish
References: 17
Page: 28-31
PDF size: 454.51 Kb.
ABSTRACT
Chromosomal translocations are an interchange between
chromosome segments, with one breakpoint in each
chromosome. Translocations can be defined as reciprocal
or robertsonian; reciprocal is the most common in the
humans. An amniotic fluid sample was received in the
Cytogenetic laboratory from Centro Nacional de Genética
Médica; the patient was a 39 years old pregnant woman,
with no previous record of family abnormalities. The
karyotype obtained was 45, XX, der(15; 22) (q10;q10) mat,
t(5;17)(q31.3;q25) de novo. Both parents were studied and
the mother was identified as a carrier of translocation 15;
22. These findings show a rare chromosome abnormality in
the offspring of an advanced maternal age pregnant woman
and provide knowledge for a better genetic counseling.
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