Cryptic translocations may escape diagnosis, especially when they implicate
chromosomal regions that are known to be polymorphic in the human karyotyp
e. We describe a case of postnatal diagnosis of Beckwith-Wiedemann syndrome
(BWS) due to an unbalanced translocation that had not been diagnosed in th
e fetal karyotype. This first cytogenetic analysis revealed that one chromo
some 14 presented as a common acrocentric short arm polymorphism. Further a
nalyses after birth, using C-banding, NOR staining and fluorescence in situ
hybridization (FISH) with telomeric probes, revealed that it was the resul
t of an unbalanced de novo t(11;14)(p15;p13) translocation leading to parti
al lip trisomy and to BWS. Prenatal cytogenetic management of such apparent
ly inoffensive chromosome markers is discussed. Copyright (C) 2001 John Wil
ey & Sons, Ltd.