The trisomy 18 syndrome with an E/G translocation

Abstract

An infant with a typical Edwards syndrome and a modal chromosome number of 46 is reported. In all cells analyzed one chromosome G was missing and an additional chromosome similar to a pair No. 16 was present. The phenotype of the child indicates that the extra element is a translocation between G and 18 chromosomes as in one case described previously.

Partial 18 trisomy syndrome resulting from paternal 6/18 reciprocal translocation

“…Compared to complete 18 trisomy, however, distal 18q trisorny syndrome does not show the following characteristic features of complete 18 trisomy which includes considerable growth retardation at birth, low set ears, clenched fists with overlapping fingers, severe inner organ malformation, narrow pelvis, rocker bottom feet and very short life span. They considered that the critical segment resulting in 18 trisomy syndrome locates on 18qll and the region is responsible for most signs in this syndrome (Stern and Murch, 1975;Dziekanowska et aL, 1976;Kameyama et aL, 1977;Hodes et al, 1978;Fried et aL, 1978).…”

Trisomy for the long arm of the chromosome 18 due tode novo 18/21 translocation

“…Only about 15 cases appeared in the literature sporadically in the past 2 decades (Neu et al, 1976). Among them there are 4 cases with 18/G translocation 18 trisomy (Koch et al, 1968;Cohen et al, 1972;Dziekanowska et al, 1976;Neu et aI., 1976), in which 8/21 translocation was identified in 2 cases (Cohen et al, 1972;Neu et al, 1976). In the case ofNeu et al (1976), the translocation chromosome has somewhat different morphology from ours with elongation of its centromeric region.…”

Partial trisomy 18 in a family with a translocation (18;21)(q21;q22).

“…At birth he reported, including cases involving translocation of the was cyanosed and apnoeic. On the fifth day a grade long arms of 18 to chromosome 21 (Cohen et al, IV pansystolic murmur was heard and the infant 1972;Dziekanowska et al, 1976;Neu et al, 1976). developed signs of heart failure which responded to We present a further example of 18q/21 translocation digoxin.…”