Probing the human genome in search for a new 3q syndrome.

Abstract

We report a case of partial trisomy 3q syndrome which could not be clinically identified as a distinct entity. The major clinical findings include: psychomotor delay with behavioral problems, coarse facial features, frontal bossing, bushy eyebrows, prominent ears, a small upturned nose and a history of repaired inguinal hernia. There was an additional material on chromosome 4, which could easily be matched with bands 18q21.2-q22; 2p24-p25; 16p21-p23; 10p12-p14; 20q12-q13.2; 15q25-q26.2; 8p23-p24.2 and 6p22.3-p24 and a new syndrome could apparently be suggested based on GTG techniques alone. Nevertheless, by FISH technique, the extra segment was identified as a part of 3q26.3-qter. We provide an extensive review of trisomy 3q syndrome and present a caveat of the consequences of description of new syndromes based on routine banding techniques especially in situations where the origin of chromosomal abnormalities is de novo or parents are not available for cytogenetic evaluation.