Kidney abnormalities in persons with monosomy 15q26.

摘要

Association of monosomy 15q26 and congenital diaphragmatic hernia (CDH) was the focus of several recent publications [Klaassens et al., 2005, 2007; Slavotinek et al., 2006]. The critical segment, responsible for this defect, has been narrowed to approx3 Mb, but the gene has not been pinpointed yet. Analysis of other malformations in persons with CDH and monosomy 15q26 shows that four out of five known patients with CDH and r(15) [de Jong et al., 1989; Turner et al., 2004; Klaassens et al., 2005; Elghezal et al., 2007] had also kidney defects, and 3 out of 5 had various congenital heart defects (CHD). This pattern (CDH-kidney-heart) is remarkably stable. There are 11 published cases of CDH and "pure" deletion 15q26 [Adeyinka et al., 2005; Klaassens et al., 2007], and one of them [Tonks et al., 2004] was not fully described. Associated heart defects were mentioned in 5 of 10, associated kidney defects in 3/10 (Table I). In 12 more cases CDH [Higgins et al., 2004; Zackai et al., 2006; Klaassens et al., 2007; DeScipio et al., 2008] or its equivalents [Fukushima et al., 2002; Nagai et al., 2002] were found in persons with del 15q26 and trisomy for the part of another chromosome.