Partial trisomy of the short arm of chromosome 3 (3p25→3pter)

Abstract

Two profoundly mentally retarded brothers with partial trisomy for the distal part of the short arm of chromosome 3 (3p25 to 3pter) are described. Their anomaly arose as a segregation product of a balanced t(3p-;18q+) translocation in the mother. Compared with the other cases of partial 3p trisomy reported up to now, the present patients display a similar craniofacial dysmorphism with hypertelorism, broad nasal tip, short upper lip with prominent philtrum, and a large mouth with down-turned corners. Other stigmata, such as a prominent, high forehead with frontal bossing and full cheeks, were present during childhood but progressively disappeared.

Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome

“…Partial duplications of 3p25‐3pter are rare and have been reported in six cases [Rivas et al, 1985; Parloir et al, 1979; Hersh et al, 1980; Martin and Steinberg, 1983; Lurie et al, 1986]. The partial 3p trisomy present in these patients was shown to be due to malsegregation of chromosomes involved in a parental balanced translocation producing duplication‐deletion rearrangements.…”

The dup(3)(p25 → pter) syndrome: A case with holoprosencephaly

“…Duplication of parts of 3p is relatively rare and was first described by RethorC et a1 [ 19721. To date 17 cases have been described with banding studies to determine location of breaks [RethorC et al, 1972;Ballesta et al, 1974;Sachdeva et al, 1974;Say et al, 1976;Surana et al, 1976;Francke, 1978;Schinzel et al, 1978;Yunis, 1978;Parloir et al, 1979;Hersch et al, 1980;Monteiro de Pino Net0 andFerrari, 1980 Buchinger et al, 1981;Charrow et al, 19811. Whenever both parents were studied, a balanced translocation was found in one of them.…”

Partial trisomy 3p syndrome

“…A clinically recognizable syndrome is seen with partial trisomy of the distal portion of the short arm of chromosome 3. All 22 reported cases have been the result of infants receiving a derivative chromosome from a balanced rearrangement in a parent (Aarskog 1969, Ballesta & Vehi 1974, Buchinger et a1 1981, Charrow et al 1981, Francke 1978, Gimelli et al 1985, Hersh et al 1980, Monteiro de Pina Net0 & Ferrari 1980, McHugh et al 1971, Parloir et al 1979, Rethort et al 1972, Surana et al 1977, Say et al 1976, Schinzel et al 1978, Van Regemorter et al 1983, Yunis 1978.…”