Interstitial deletion of the distal long arm of chromosome 4, del (4)(q33-q35), in association with paternal balanced translocation

Mdzin R, Ko C, Abdul Latif Z, Zakaria Z
Correspondence: Dr Reena Rahayu Md Zin, ayureena@hotmail.com

ABSTRACT
Interstitial deletions of the long arm of chromosome 4 are rare. The deletions may occur at the proximal or the distal portions of the chromosome and different breakpoints may be involved. We report an interstitial deletion of 4q: 46XY der 4 (q28;q35) in a six-year-old boy with dysmorphic features associated with moderate mental retardation. Parental chromosomal analysis showed a balanced paternal translocation.

Keywords: 4q interstitial deletion, chromosome abnormality, intersitial deletion, mental retardation, paternal dislocation, short stature
Singapore Med J 2008; 49(11): e336-e339