Department of Pathology, Louisiana State University Health Sciences Center, New Orleans, Louisiana 70118, USA.
Am J Med Genet A. 2009 Nov;149A(11):2538-42. doi: 10.1002/ajmg.a.33078.
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.
染色体 9 和 22 之间的染色体相互易位（CRT）以前仅在 5 次发表过。我们报告了第六例平衡 t(9;22)携带者，他的孩子在减数分裂 3:1 分离后出现三级单体性，因此引起了医疗关注。这是 t(9;22) CRT 第二次来自父本亲本，也是 t(9;22) 发生 3:1 分离的首例报告。其临床表现与两个描述良好的细胞遗传学微缺失综合征重叠，这在以前也未曾有过：9q 端粒亚端粒和 22q11.2 缺失综合征。由于其在染色体 9q34 上的罕见断点，该病例也强调了对 CRT 携带者父母所生后代进行微阵列比较基因组杂交分析的重要性。
