Karmous-Benailly Houda, Giuliano Fabienne, Massol Christophe, Bloch Catherine, De Ricaud Dominique, Lambert Jean-Claude, Perelman Serge
Service de génétique médicale, hôpital l'Archet 2, CHU de Nice, 151, route de Saint-Antoine-de-Ginestière, 06202 Nice cedex 03, France.
Eur J Med Genet. 2006 Sep-Oct;49(5):431-8. doi: 10.1016/j.ejmg.2006.01.008. Epub 2006 Feb 10.
Complex chromosome rearrangements (CCR) are rare structural chromosome aberrations that can be found in patients with phenotypic abnormalities or in phenotypically normal patients presenting, however, recurrent miscarriages or infertility. Conventional karyotype generally allows their identification. However, molecular cytogenetic methods can reveal subtle rearrangements. We report, here, the identification of an unbalanced maternally inherited CCR in a boy with multiple congenital malformations and delayed development. High-resolution karyotype completed by molecular cytogenetic prompted us to precise the rearrangements. The healthy mother was found to carry a balanced de novo CCR that implicates four chromosomes (8, 10, 11 and 16), six breakpoints, three translocations and an insertion. The malsegregation of this CCR had led, in her son, to partial 10p12.3 to 10p14 deletion, a chromosomal region associated with the DiGeorge like phenotype.
复杂染色体重排（CCR）是罕见的染色体结构畸变，可在有表型异常的患者中发现，或在表型正常但有复发性流产或不孕的患者中发现。传统核型分析一般可对其进行识别。然而，分子细胞遗传学方法能揭示细微的重排。在此，我们报告在一名患有多种先天性畸形和发育迟缓的男孩中鉴定出一种母系遗传的不平衡CCR。分子细胞遗传学辅助的高分辨率核型分析促使我们精确确定重排情况。发现健康母亲携带一种平衡的新发CCR，涉及四条染色体（8号、10号、11号和16号）、六个断点、三次易位和一次插入。该CCR的错误分离导致其儿子出现10p12.3至10p14部分缺失，该染色体区域与DiGeorge样表型相关。
