Paternal balanced reciprocal translocation t(9;22)(q34.3;q11.2) resulting in an lnfant with features of the 9q subtelomere and the 22q11 deletion syndromes due to 3:1 meiotic segregation and tertiary monosomy

Abstract excerpt

The constitutional chromosomal reciprocal translocation (CRT) involving chromosomes 9 and 22 has been previously published in only five occasions. We report the sixth case of a balanced t(9;22) carrier who came to medical attention following the birth of his child with tertiary monosomy due to 3:1 meiotic segregation. This is only the second occurrence of paternal parent-of-origin to the t(9;22) CRT and is the...

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