TY - JOUR T1 - Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5). JF - Journal of Medical Genetics JO - J Med Genet SP - 958 LP - 961 DO - 10.1136/jmg.30.11.958 VL - 30 IS - 11 AU - N Tommerup AU - C A Brandt AU - S Pedersen AU - L Bolund AU - J Kamper Y1 - 1993/11/01 UR - http://jmg.bmj.com/content/30/11/958.abstract N2 - Beckwith-Wiedemann syndrome (BWS), a disorder associated with neonatal hypoglycaemia, increased growth potential, and predisposition to Wilms's tumour (WT) and other malignancies, has been mapped to 11p15. The association with 11p15 duplications of paternal origin, of balanced translocations and inversions with breakpoints within 11p15.4-p15.5 of maternal origin, and the demonstration of uniparental paternal 11p15 isodisomy in some sporadic cases point towards the involvement of genomic imprinting. In agreement with this, we show the paternal origin of a de novo 9;11 translocation in a phenotypically normal mother, whose carrier daughter developed BWS. This supports the fact that BWS associated with balanced chromosome mutations is transmitted in the same sex dependent pattern as non-cytogenetic forms of familial BWS. ER -