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Case Report

IJHSR. 2016; 6(11): 278-281


Evidence of Rare Robertsonian Translocation (14; 21) Inherited From Mother: A Case Report from North-Eastern State Assam.

Debajit Saikia, Giriraj Kusre.

Abstract
Robertsonian translocation is a rare event out of which maternally inherited ROBS is about 1%. Maternally inherited Robertsonian Translocations (14; 21) have not been reported from North East India. A female baby was born with sluggish reflexes, flat occiput and facial dysmorphism. In suspection of chromosomal abnormality the baby was subjected to cytogenetic evaluation at our lab. Age of the mother and father of the baby was 28 years and 33 years respectively. The baby was the first child of the parents. Parents were phenotypically normal. After karyotype of the baby was found to be 46, XX, t (14; 21) (q10:q10) and the karyotype of the mother was found to have 45, XX, t(14;21) (q10:q10) whereas her father was cytogenetically normal i.e. 46, XY. The heterozygous carrier for ROBs is phenotypically normal though the total number of chromosomes may be 45 but they can transmit the translocation to their baby along with an extra copy of 21 chromosome resulting in unbalanced translocation. This is supported by the present case as the baby had a karyotype of 46, XX, t (14; 21) (q10:q10) and her mother had a karyotype of 45, XX, t (14; 21) (q10:q10). ROBs may be sporadic or familial. In familial cases one of the parents is a carrier of balanced translocation. If such translocations are seen in the mother the recurrence rate of an unbalanced trisomy child is much higher compared to translocations of paternal origin.

Key words: Robertsonian translocation, maternally inherited, cytogenetic evaluation, trisomy 21, North East India.



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