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

Authors

  • Robin R. McGoey,

    1. Department of Pathology, Louisiana State University Health Sciences Center, New Orleans, Louisiana
    2. Division of Clinical Genetics, Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, Louisiana
    3. Children's Hospital of New Orleans, Louisiana
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  • Yves Lacassie

    Corresponding author
    1. Division of Clinical Genetics, Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, Louisiana
    2. Children's Hospital of New Orleans, Louisiana
    • Division of Genetics, Department of Pediatrics, LSUHSC and Children's Hospital of New Orleans, 200 Henry Clay Avenue, New Orleans, LA 70118.
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  • How to cite this article: McGoey RR, Lacassie Y. 2009. 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. Am J Med Genet Part A 149A:2538–2542.

Abstract

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 first report of a t(9;22) undergoing 3:1 disjunction. It is also unique in its constellation of clinical features that overlap with two well-described cytogenetic microdeletion syndromes: the 9q subtelomeric and 22q11.2 deletion syndromes. With its uncommon breakpoint at chromosome 9q34, this case also emphasizes the added importance of array comparative genomic hybridization to analysis of offspring born to CRT carrier parents. © 2009 Wiley-Liss, Inc.

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