Homozygosity for a robertsonian translocation [13q;14q] in a phenotypically normal 44, XX female with a history of recurrent abortion and a normal pregnancy outcome
Journal of Reproduction and Infertility. 2016; 17 (3): 184-187
in English
| IMEMR
| ID: emr-184682
ABSTRACT
Background:
Robertsonian translocations are structural chromosomal abnormalitiescaused by fusion of two acrocentric chromosomes. In carriers of such translocations,different modes of segregations would result in the formation of either balanced [alternatesegregation mode] or unbalanced [adjacent 1, adjacent 2, and 31 segregationmodes] gametes. In addition, there is an increased risk for imprinting disorders intheir offspring. Although it has been estimated that 1/1000 healthy persons carry aRobertsonian translocation, homozygosity for this type of structural chromosomalabnormality has been reported rarely. Most of reported cases are phenotypicallynormal but experience adverse pregnancyoutcomes:
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Index:
IMEMR (Eastern Mediterranean)
Language:
English
Journal:
J. Reprod. Infertil.
Year:
2016
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