Interstitial 1q42-q44 deletion defined by fish in a short-lived female

Abstract

We report a female newborn with a de novo 1q4 deletion ascertained by G bands but refined as an interstitial one by FISH with a subtelomeric 1q probe; hence, the final karyotype was 46,XX,del(1)(q42q44).ish subtellq x 2. She presented a few typical features of the del(1q42) syndrome. Additionally, she showed occipital skin aplasia, interauricular communication, and intestinal perforation-obstruction and she died at 24 days of age. This observation illustrates the clinical variability of the syndrome as well as the occasional reduced survival. The redefinition by molecular cytogenetics of a terminal deletion as an interstitial one suggests that interstitial deletions are more common than reported by classic cytogenetics and can partially account for the phenotypic variability in some deletion syndromes.