Editor—An imbalance of genetic material, especially monosomy, will usually give rise to an abnormal phenotype. A few instances of proximal 2q deletions have been published, but previous cases (q12-q14,1 q12-q14.2,2q14-q213 4) have been associated with clinical features such as mental retardation, facial dysmorphism, heart defects, and renal and digital anomalies.3 We ascertained an interstitial deletion of chromosome 2 at q13-q14.1 (fig 1) in a clinically normal G6, P2, SAB3 woman aged 38. She had been referred for chromosome analysis following three successive miscarriages at 8½, before 11, and at 7 weeks' gestation. Her current pregnancy was chromosomally normal at amniocentesis and continuing at 26 weeks. Testing of her two previous children was not being pursued at the time of writing. This deletion was subsequently found to have been transmitted by her G2, P2 mother who had no associated phenotype nor history of miscarriages. Cytogenetic analysis at the 600 band level failed to detect a subtle insertional translocation of the missing material elsewhere in the genome and the partners of both mother and daughter had normal karyotypes. Here we have attempted to define the extent of this deletion and thereby the degree of euchromatic loss using fluorescence in situ hybridisation (FISH).

Whole …