A PROBABLE CASE OF 8q TRISOMY

Duplication of part of the long arm of chromosome 8 due to a familial 8; 13 translocation

“…Duplication of the distal part of the long arm of chromosome 8 has been reported several times (ABUELO et al 1977;BALLESTA et al 1980;CHITHAM et al 1977;FRYNS et al 1974;LAURENT et al 1974;LEJEUNE and RETHORE 1973;LEJEUNE et al 1972;RETHORE et al 1977; SANCHEZ and YUNIS 1974;SCHINZEL 1977). However, the breakpoints on chromosome 8 have varied between q21 and 924, and no consistent syndrome has yet emerged.…”