Trisomy 8p due to the 3:1 segregation of the balanced translocation t(8;15)mat

Abstract

An additional small G-like chromosome was found in a newborn female with multiple abnormalities and hemorrhagic diathesis. G banding showed that the index patient was trisomic for the short arm of chromosome 8 and revealed the anomaly t(8;15)(q12;p11) in her mother. The relationship between chromosome 8 and multiple hemorrhages is discussed.

Partial 8 trisomy by 3∶1 segregation of balanced maternal translocation t(6q+; 8q−)

“…To our knowledge, the present case is the second of the trisomy 8p due to maternal translocation 3 : 1. The clinical features of trisomy 8p patients are not distinctive enough to form a single disease entity (Funderburk et al, 1978;Lazjuk et al, 1979;Jensen et al, 1982;Allen and Hodgkin, 1983). Our patient presents a few clinical features similar to those reported in cases with trisomy 8p (Table 2).…”

“…Since trisomy 8p was first described by Yanagisawa (1973) in three relatives, twenty-six cases have been reported up to the present (Rosenthal et al, 1973;Sonta et al, 1974;Chiyo et al, 1975;Funderburk et al, 1976Funderburk et al, , 1978Weleber et al, 1976;Clark et al, 1977;Rethore et al, 1977;Taylor et al, 1977;Hongell et al, 1978;Lazjuk et al, 1979;Fineman et al, 1979;Mattei et al, 1980;Jones et al, 1980;MorenoFuenmayor et al, 1980;Jensen et al, 1982;Allen and Hodgkin, 1983). Eleven among these examples were trisomy due to tandem duplication (Weleber et aI., 1976;Rethore et al, 1977;Taylor et al, 1977;Hongell et al, 1978;Mattei et al, 1980;Jensen et al, 1982), and the others were due to the familial reciprocal translocatiorts.…”

“…30, No. 3, 1985 6.. by Lazjuk et al (1979) was due to a 3 : 1 segregation. To our knowledge, the present case is the second of the trisomy 8p due to maternal translocation 3 : 1.…”

“…Eleven among these examples were trisomy due to tandem duplication (Weleber et aI., 1976;Rethore et al, 1977;Taylor et al, 1977;Hongell et al, 1978;Mattei et al, 1980;Jensen et al, 1982), and the others were due to the familial reciprocal translocatiorts. In thirteen cases an abnormal chromosome was inherited from a carlier mother (Yanagisawa and Hiraoka, 1971;Yanagisawa, 1973;Rosenthal et al, 1973;Sonta et al, 1974;Clark et al, 1977;Lazjuk et al, 1979;Fineman et al, 1979;Jones et al, 1980;MorenoFuenmayor et al, 1980), and in three cases the carriers were fathers (Chiyo et al, 1975;Funderburk et al, 1976Funderburk et al, , 1978Allen and Hodgkin, 1983) (Table 1). All familial translocation cases except one (Lazjuk et aI., 1979) were due to the usual type of meiotic segregation 2 : 2.…”

“…The clinical features of trisomy 8p appear to consist of several dysmorphic features common to many other chromosome abnormalities. Therefore, as stated by Lazjuk et al (1979), it seems that it is difficult to diagnose trisomy 8p based on the clinical features alone.…”