A case of 47,XY,+der(15),t(3;15) (p25;qll)pat presenting as partial 3p trisomy syndrome with multiple joint contractures

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

“…Her developmental progress is also in keeping with these patients. A patient with partial 3p trisomy has been described with multiple joint contractures [Hersh et al, 1980].…”

Partial trisomy 3p syndrome

“…Vehi (1974), Gimelli et al (1985), Say et al (1976), Schinzel et al (1978, Surana et al (1977). Hersh et al (1980). Parloir et al (1979).…”

“…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.…”

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.…”