期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 149A, 期 11, 页码 2538-2542出版社
WILEY
DOI: 10.1002/ajmg.a.33078
关键词
reciprocal translocation; quadrivalent; 3:1 segregation; tertiary monosomy; 9q subtelomere deletion; partial monosomy 9q; leukemia; velo-cardio facial syndrome; partial monosomy 22q; bcr-abl1; array comparative genomic hybridization
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. (C) 2009 Wiley-Liss, Inc.
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