Robertsonian translocations occur when two of the acrocentric
chromosomes (13, 14, 15, 21, or 22) become joined together.
Balanced translocation carriers have 45 chromosomes but no
significant loss of overall chromosomal material and they are
almost always healthy. In unbalanced translocation karyotypes
there are 46 chromosomes with trisomy for one of the
chromosomes involved in the translocation. This may lead to
spontaneous miscarriage (chromosomes 14, 15, and 22) or
liveborn infants with trisomy (chromosomes 13 and 21).
Unbalanced Robertsonian translocations may arise
spontaneously or be inherited from a parent carrying a
balanced translocation.
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