5q35 duplication and Hunter-McAlpine syndrome: missing the link.

摘要

In their recent report on a child with 5q34 -> q35 duplication, Kariminejad et al. [2009] refer to 39 comparable patients but omit at least 16 other reports concerning distal 5q duplications [Ades et al., 1993; Nakayama et al., 1993; De Albuquerque Coelho et al., 1996; Kriplani et al., 1998; Kotzot et al., 2000; Vogels et al., 2000; Sanchez-Garcia et al., 2001; Carbonell Perez et al., 2004; Bocian et al., 2005; Hunter et al., 2005; Koolen et al., 2006; Chen et al., 2006a,b; Kirchhoff et al., 2007; Buysse et al., 2008; Utine et al., 2008]. Of utmost relevance is the lack of any mention to the close relationship or even sameness of this chromosomal entity with the syndrome first delineated in six affected members of a Canadian family and assumed to result from either an autosomal dominant allele or a chromosomal imbalance [Hunter et al., 1977]; in fact, it was recently shown that the patients in this family had a cryptic 5q35 duplication onto 13p and were connected through healthy carriers of a 5; 13 translocation [Hunter et al., 2005]. Moreover, this finding led Hunter et al. [2005] to reassess by molecular methods a patient described with the eponym Hunter-McAlpine syndrome [Ades et al., 1993 ], a quest that actually disclosed a similar 5q duplication onto 1q44. The inescapable conclusion that 5q35 duplication causes the Hunter-McAlpine syndrome was stressed by Chen et al. [2006b]. Thus, failing to cite these crucial articles appears to be the most sensible omission by Kariminejad et al. [2009] who otherwise would then have become aware of 7 out of 16 reports aforementioned.