Familial mental retardation in a family with an inherited chromosome rearrangement

摘要

A family of three generations has been described with an insertional type of chromosome rearrangement involving chromosomes 11 and 18[46,XX or XY, ins(11;18)(p15;q11q21)] detected by G-banding using a trypsin digestion method. Four members of this family with clinical features of 18q− have inherited the der(18) from their father and are thus deficient for (18)(q11q21). Three other family members have inherited the der(11) and thus have a duplication of the same segment [(18)(q11q21)]. Genetic marker studies on this family, show no significant segregation of any of the markers studied with either the der(11) or der(18). Eight family members had the PepA⁸PepA¹ genotype and four of these were carrying the der(18), indicating that the PepA locus which had been previously assigned to chromosome 18, does not lie in the segment q11→q21.