The 2p partial trisomy syndrome. Duplication of region 2p23 leads to 2pter in two members of a t(2;7) translocation kindred
U. Francke and K. L. Jones
Strikingly similar abnormalities were present in two severely retarded
children, an 8-year-old boy and a 12-year-old girl, who were first cousins
once removed. Dysmorphic features included high bulging forehead with
frontal upsweep of hair, flat, wide glabella and nasal bridge, maxillary
hypoplasia, ptosis, dacryostenosis, dolichostenomelia, hyperextensible
fingers with subluxation in proximal interphalangeal joints, hypoplastic
external genitalia, and overconstriction of the shafts of all long bones.
Both patients had unbalanced karyotypes, with duplication of the distal
third of the short arm of chromosome 2, resulting from the same balanced
reciprocal translocation prestne in both mothers: der (2),
t(2;7)(p23;q36)mat. Seven additional translocation carriers were identified
in four generations of this kindred.
