[Distal 14q trisomy]

Abstract

A 22-month-old boy was found to be trisomic for distal 14q due to malsegregation of a t(10;14)(q26.3;q32.1)pat. This observation and seven others reported in the literature permit the delineation of the corresponding clinical syndrome, which includes the following : intra-uterine and postnatal growth retardation; craniofacial dysmorphism : a large facies, chubby cheeks, facial asymmetry, hypertelorism, a broad nose, a short prominent philtrum, a carp-shaped mouth, micrognathia, low-set ears with a prominent antitragus; nipples set high and far apart; short upper limbs; hypogenitalism in the male; internal organ malformations : brain, lung, and heart defects, the last often responsible for an early death. This syndrome resembles that of complete trisomy 14q. The border of the index case was mentally deficient; he carried the paternal translocation as well as an extra unidentifiable fragment translocated onto the short arm of the rearranged chromosome 10.