A case of 46,XY,t(1;13) (q24;q32) with mental retardation

Abstract

A 14-year-old mentally retarded boy with congenital malformations of unknown etiology was found to have a de novo apparently balanced reciprocal translocation between chromosomal arms 1q and 13q. There is only one other case where a similar translocation was observed but the breakpoints could be localized only by regions and the individual was not mentally retarded.

Balanced translocations in mental retardation

“…This conWrmed haploinsuYciency of EHMT1 as the main cause of the del(9q) syndrome. Similarly, studying patients with a syndromic (1975) t(1;13)(q24;q32) MR + congenital malformations Wilbur et al (1977) t(X;9)(p22;q12) MR + dysmorphism Mattei et al (1978) t(6;17)(p22;q22) MR + dysmorphism Ayme et al (1979) t(2;10)(q14;q23) MR + dysmorphism Ayme et al (1979) t(5;15)(q13;q25) MR + Enuresis type 2 Nielsen and Krag-Olsen (1981) t(12;17)(q15;q25) MR + dysmorphisms Coco and Penchaszadeh (1982) t(13;18)(q21;q21) MR + dysmorphisms Coco and Penchaszadeh (1982) t(6;14)(q13;q32) 'MR of any degree ' Friedrich et al (1982) t(9;17)(q34;q11) Ehlers-Danlos Dockery et al (1982) t(4;7)(q34;q31) 'MR of any degree' Rasmussen et al (1982) t(1;16)(q12;p13) MR + behaviour disorder Rasmussen et al (1982) t(1;2)(p36;q23) 'MR of any degree' Rasmussen et al (1982) t (1;16) form of Hirschprung disease known as Mowat-Wilson, two independent labs each found a balanced translocation disrupting the ZEB2 gene. During subsequent mutation screening in patients with the clinical symptoms of MowatWilson, they both conWrmed the gene's involvement in the phenotype of this microdeletion syndrome (Cacheux et al 2001;Wakamatsu et al 2001).…”